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JAMES R LUPSKI

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
AddressOne Baylor Plaza, 604B
Houston TX 77030
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Pediatrics
    DivisionPediatrics-Administration


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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, Rudzka-Dybala M, Jamroz E, Pyrkosz A, Jakubiuk-Tomaszuk A, Iwanowski P, Gieruszczak-Bialek D, Piotrowicz M, Sasiadek M, Kochanowska I, Gurda B, Steinborn B, Dawidziuk M, Castaneda J, Wlasienko P, Bezniakow N, Jhangiani SN, Hoffman-Zacharska D, Bal J, Szczepanik E, Boerwinkle E, Gibbs RA, Lupski JR. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 Apr 30. PMID: 29706646.
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    2. Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat. 2018 Apr 25. PMID: 29696747.
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    3. Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 Apr 25. PMID: 29696776.
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    4. Konno H, Chinn IK, Hong D, Orange JS, Lupski JR, Mendoza A, Pedroza LA, Barber GN. Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. Cell Rep. 2018 Apr 24; 23(4):1112-1123. PMID: 29694889.
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    5. Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 May 03; 102(5):985-994. PMID: 29656860.
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    6. Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Stray-Pedersen A, Pedroza LA, Poli MC, Aldave Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Cao TN, Hong DN, Gibbs RA, Lupski JR, Orange JS, McClain KL, Allen CE. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 Apr 09. PMID: 29632024.
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    7. Gawlinski P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Rózdzynska-Swiatkowska A, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M. Phenotype expansion and development in Kosaki overgrowth syndrome. Clin Genet. 2018 Apr; 93(4):919-924. PMID: 29226947.
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    8. Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim BJ, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny D, Hsu CW, Lashua AJ, Sun X, Fernandes CJ, Dickinson ME, Lally KP, Gibbs RA, Boerwinkle E, Lupski JR, Scott DA. The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia. Hum Mol Genet. 2018 Mar 28. PMID: 29618029.
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    9. Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Coban Akdemir Z, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet. 2018 Mar 16. PMID: 29566152.
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    10. Dinckan N, Du R, Akdemir ZC, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, Uyguner ZO, Letra A. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 Apr; 176(4):1015-1022. PMID: 29436111.
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    11. Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 Mar; 26(3):330-339. PMID: 29343805.
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    12. Ruiz-García R, Vargas-Hernández A, Chinn IK, Angelo LS, Cao TN, Coban-Akdemir Z, Jhangiani SN, Meng Q, Forbes LR, Muzny DM, Allende LM, Ehlayel MS, Gibbs RA, Lupski JR, Uzel G, Orange JS, Mace EM. Mutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018 Jan 10. PMID: 29330011.
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    13. Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2018 Jan 04; 102(1):196. PMID: 29304375.
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    14. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 Dec 04; 171(12):e173438. PMID: 28973083.
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    15. Harel T, Lupski JR. Genomic disorders 20 years on-mechanisms for clinical manifestations. Clin Genet. 2018 Mar; 93(3):439-449. PMID: 28950406.
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    16. Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 Nov 02; 101(5):716-724. PMID: 29100085.
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    17. Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, Penny DJ, Fraser CD, Martin JF, Eng C, Lupski JR, Gibbs RA, Boerwinkle E, Belmont JW. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med. 2017 Oct 31; 9(1):95. PMID: 29089047.
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    18. Hampton OA, English AC, Wang M, Salerno WJ, Liu Y, Muzny DM, Han Y, Wheeler DA, Worley KC, Lupski JR, Gibbs RA. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017 Oct 03; 18(Suppl 6):691. PMID: 28984202.
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    19. Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 Sep 21; 9(1):83. PMID: 28934986.
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    20. Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Schackert HK, Ranzani GN, Molinaro V, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Bjørnevoll I, Høberg-Vetti H, van Kessel AG, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet. 2017 11; 25(11):1246-1252. PMID: 28875981.
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    21. Gillentine MA, White JJ, Grochowski CM, Lupski JR, Schaaf CP, Calarge CA. CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 Aug 17. PMID: 28817303.
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    22. Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 Aug 14; 9(1):73. PMID: 28807008.
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    23. Dinckan N, Du R, Petty LE, Coban-Akdemir Z, Jhangiani SN, Paine I, Baugh EH, Erdem AP, Kayserili H, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Uyguner ZO, Below JE, Letra A. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2017 Aug 01; 22034517724149. PMID: 28813618.
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    24. Miszalski-Jamka K, Jefferies JL, Mazur W, G?owacki J, Hu J, Lazar M, Gibbs RA, Liczko J, K?y? J, Venner E, Muzny DM, Rycaj J, Bia?kowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MN. Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2017 Aug; 10(4). PMID: 28798025.
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    25. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905. PMID: 28742085.
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    26. Valera JM, Diaz T, Petty LE, Quintáns B, Yáñez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, Fogel BL. Prevalence of spinocerebellar ataxia 36 in a US population. Neurol Genet. 2017 Aug; 3(4):e174. PMID: 28761930.
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    27. Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 Jul 06; 101(1):149-156. PMID: 28686854.
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    28. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 Jun 28. PMID: 28660352.
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    29. Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A. 2017 Jun 20. PMID: 28631899.
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    30. Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet. 2017 Jun 07. PMID: 28602422.
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    31. Chinn IK, Sanders RP, Stray-Pedersen A, Coban-Akdemir ZH, Kim VH, Dadi H, Roifman CM, Quigg T, Lupski JR, Orange JS, Hanson IC. Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168. Front Immunol. 2017; 8:576. PMID: 28603521.
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    32. Patel DR, Yu H, Wong LC, Lupski JR, Seeborg FO, Rider NL, Martinez CA, Orange JS, Hanson C. Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report. J Allergy Clin Immunol Pract. 2017 Apr 21. PMID: 28438538.
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    33. Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Apr 06; 100(4):689. PMID: 28388435.
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    34. Falah N, Posey JE, Thorson W, Benke P, Tekin M, Tarshish B, Lupski JR, Harel T. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A. 2017 Apr; 173(4):1066-1070. PMID: 28328136.
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    35. Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 Mar 21; 9(1):26. PMID: 28327206.
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    36. Zhang L, Wang J, Zhang C, Li D, Carvalho CM, Ji H, Xiao J, Wu Y, Zhou W, Wang H, Jin L, Luo Y, Wu X, Lupski JR, Zhang F, Jiang Y. Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. Hum Mol Genet. 2017 Mar 14. PMID: 28334874.
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    37. Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Mar 13. PMID: 28288113.
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    38. Wang DS, Wu X, Bai Y, Zaidman C, Grider T, Kamholz J, Lupski JR, Connolly AM, Shy ME. PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E. Ann Clin Transl Neurol. 2017 Apr; 4(4):236-245. PMID: 28382305.
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    39. Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 Mar; 3(2):a000984. PMID: 28299356.
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    40. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AM, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 Mar 01. PMID: 28251352.
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    41. Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain. 2017 Feb 28. PMID: 28334956.
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    42. Liu P, Yuan B, Carvalho CM, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 Feb 23; 168(5):830-842.e7. PMID: 28235197.
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    43. Pedroza LA, Guerrero N, Stray-Pedersen A, Tafur C, Macias R, Muñoz G, Akdemir ZC, Jhangiani SN, Watkin LB, Chinn IK, Lupski JR, Orange JS. First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis. Front Pediatr. 2017; 5:17. PMID: 28239602.
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    44. Tcw J, Carvalho CM, Yuan B, Gu S, Altheimer AN, McCarthy S, Malhotra D, Sebat J, Siegel AJ, Rudolph U, Lupski JR, Levy DL, Brennand KJ. Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports. 2017 Feb 09. PMID: 28216146.
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    45. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351. PMID: 28132692.
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    46. Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363. PMID: 28132691.
      View in: PubMed
    47. Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ. Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131. PMID: 28017472.
      View in: PubMed
    48. Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MA, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017 Jan 05; 100(1):117-127. PMID: 28017373.
      View in: PubMed
    49. Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CM, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2016 Dec 14. PMID: 27980096.
      View in: PubMed
    50. Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31. PMID: 27959697.
      View in: PubMed
    51. Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, Syk Lundberg E, Carvalho CM, Lindstrand A. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Hum Mutat. 2017 Feb; 38(2):180-192. PMID: 27862604.
      View in: PubMed
    52. Mace EM, Bigley V, Gunesch JT, Chinn IK, Angelo LS, Care MA, Maisuria S, Keller MD, Togi S, Watkin LB, LaRosa DF, Jhangiani SN, Muzny DM, Stray-Pedersen A, Coban Akdemir Z, Smith JB, Hernández-Sanabria M, Le DT, Hogg GD, Cao TN, Freud AG, Szymanski EP, Savic S, Collin M, Cant AJ, Gibbs RA, Holland SM, Caligiuri MA, Ozato K, Paust S, Doody GM, Lupski JR, Orange JS. Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest. 2017 Jan 03; 127(1):306-320. PMID: 27893462.
      View in: PubMed
    53. Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov; 12(11):e1006446. PMID: 27880765.
      View in: PubMed
    54. Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, Shaw CA, Jhangiani SN, Muzny DM, Gibbs RA, Rougemont J, Xenarios I, Lupski JR, Reymond A. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 Nov 01; 8(1):105. PMID: 27799067.
      View in: PubMed
    55. Eldomery MK, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106. PMID: 27799064.
      View in: PubMed
    56. Polfus LM, Boerwinkle E, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Grove M, Shete S, Wallace S, Milewicz D, Hanchard N, Lupski JR, Hashmi SS, Gupta-Malhotra M. Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel ?-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6):a001255. PMID: 27900368.
      View in: PubMed
    57. Karolak JA, Gambin T, Pitarque JA, Molinari A, Jhangiani S, Stankiewicz P, Lupski JR, Gajecka M. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet. 2016 Oct 05. PMID: 27703147.
      View in: PubMed
    58. Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016 Dec; 135(12):1399-1409. PMID: 27681385.
      View in: PubMed
    59. Posey JE, Martinez R, Lankford JE, Lupski JR, Numan MT, Butler IJ. Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance. Pediatr Neurol. 2017 Jan; 66:53-58.e5. PMID: 27773421.
      View in: PubMed
    60. Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2016 Sep 22. PMID: 27657687.
      View in: PubMed
    61. Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A. A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. Mol Genet Genomic Med. 2016 Nov; 4(6):604-616. PMID: 27896283.
      View in: PubMed
    62. Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 6; 99(4):831-845. PMID: 27640307.
      View in: PubMed
    63. Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 6; 99(4):886-893. PMID: 27616478.
      View in: PubMed
    64. Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Coban Akdemir ZH, Fish RJ, Eldomery MK, Ratbi I, Wilde AA, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 Sep 01; 99(3):786. PMID: 27588455.
      View in: PubMed
    65. Scott DA, Hernandez-Garcia A, Azamian MS, Jordan VK, Kim BJ, Starkovich M, Zhang J, Wong LJ, Darilek SA, Breman AM, Yang Y, Lupski JR, Jiwani AK, Das B, Lalani SR, Iglesias AD, Rosenfeld JA, Xia F. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 Jan; 54(1):47-53. PMID: 27550220.
      View in: PubMed
    66. Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZH, Fish RJ, Eldomery MK, Ratbi I, Wilde AA, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 Sep 1; 99(3):704-10. PMID: 27523599; PMCID: PMC5010642 [Available on 03/01/17].
    67. Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 Aug 4; 99(2):318-36. PMID: 27486776; PMCID: PMC4974085 [Available on 02/04/17].
    68. Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016; 9(1):42. PMID: 27435318; PMCID: PMC4950750.
    69. Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LT, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 Jan; 139(1):232-245. PMID: 27577878.
      View in: PubMed
    70. Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016 Oct; 138(4):1142-1151.e2. PMID: 27484032.
      View in: PubMed
    71. Macias A, Gambin T, Szafranski P, Jhangiani SN, Kolasa A, Obersztyn E, Lupski JR, Stankiewicz P, Kaminska A. CAV3 mutation in a patient with transient hyperCKemia and myalgia. Neurol Neurochir Pol. 2016 Nov - Dec; 50(6):468-473. PMID: 27772553.
      View in: PubMed
    72. Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 Oct; 135(10):1161-74. PMID: 27386852; PMCID: PMC5021589 [Available on 10/01/17].
    73. Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, Popek E, Lee AF, Lupski JR, Boerkoel CF, Stankiewicz P. Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 Sep; 170(9):2440-4. PMID: 27374786.
      View in: PubMed
    74. Mirzaa GM, Campbell CD, Solovieff N, Goold CP, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Olds C, Boyle EA, Collins S, Ishak G, Poliachik SL, Girisha KM, Yeung KS, Chung BH, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary RJ, Mahan S, Liu S, Weaver M, Dorschner MO, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey MP, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 Jul 1; 73(7):836-45. PMID: 27159400; PMCID: PMC4979321.
    75. Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A. Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 Aug; 59(8):367-72. PMID: 27286923.
      View in: PubMed
    76. Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun. 2016; 4(1):56. PMID: 27245663; PMCID: PMC4888203.
    77. Lupski JR. Clinical genomics: from a truly personal genome viewpoint. Hum Genet. 2016 Jun; 135(6):591-601. PMID: 27221143.
      View in: PubMed
    78. Fieremans N, Van Esch H, Holvoet M, Van Goethem G, Devriendt K, Rosello M, Mayo S, Martinez F, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Vermeesch JR, Marynen P, Froyen G. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat. 2016 Aug; 37(8):804-11. PMID: 27159028; PMCID: PMC4940233 [Available on 08/01/17].
    79. Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med. 2017 Jan; 19(1):13-19. PMID: 27171548.
      View in: PubMed
    80. Yuan B, Liu P, Rogers J, Lupski JR. Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization. Genom Data. 2016 Jun; 8:106-9. PMID: 27222811; PMCID: PMC4872932.
    81. Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YW, Mok GT, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-86. PMID: 27071622.
      View in: PubMed
    82. Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016 Jul; 60:83-7. PMID: 27343026.
      View in: PubMed
    83. Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IA, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, Roa Fuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Vander Poorten V, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LE, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CE. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med. 2016 Nov; 18(11):1158-1162. PMID: 26963285.
      View in: PubMed
    84. Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 Mar 9. PMID: 26965164.
      View in: PubMed
    85. Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 3; 98(3):562-70. PMID: 26942288; PMCID: PMC4800043 [Available on 09/03/16].
    86. Daly AF, Yuan B, Fina F, Caberg JH, Trivellin G, Rostomyan L, de Herder WW, Naves LA, Metzger D, Cuny T, Rabl W, Shah N, Jaffrain-Rea ML, Zatelli MC, Faucz FR, Castermans E, Nanni-Metellus I, Lodish M, Muhammad A, Palmeira L, Potorac I, Mantovani G, Neggers SJ, Klein M, Barlier A, Liu P, Ouafik L, Bours V, Lupski JR, Stratakis CA, Beckers A. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. Endocr Relat Cancer. 2016 Apr; 23(4):221-33. PMID: 26935837; PMCID: PMC4877443 [Available on 04/01/17].
    87. Carvalho CM, Lupski JR. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016 Apr; 17(4):224-38. PMID: 26924765; PMCID: PMC4827625.
    88. White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 3; 98(3):553-61. PMID: 26924530; PMCID: PMC4800044 [Available on 09/03/16].
    89. Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016; 7:10713. PMID: 26888176; PMCID: PMC4759630.
    90. James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016; 8(1):13. PMID: 26838676; PMCID: PMC4736244.
    91. Auffray C, Caulfield T, Griffin JL, Khoury MJ, Lupski JR, Schwab M. From genomic medicine to precision medicine: highlights of 2015. Genome Med. 2016; 8(1):12. PMID: 26825779; PMCID: PMC4733269.
    92. Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Jan 19. PMID: 26805781.
      View in: PubMed
    93. Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, Bayhan IA, Boerwinkle E, Gibbs RA, Elcioglu N, Tuysuz B, Lupski JR. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest. 2016 Feb; 126(2):762-78. PMID: 26752647; PMCID: PMC4731160.
    94. White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016; 8(1):3. PMID: 26739615.
      View in: PubMed
    95. Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, Doheny K, Myers RM, Shulman JM, Foroud T. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan 1; 73(1):68-75. PMID: 26595808.
      View in: PubMed
    96. Campbell IM, Gambin T, Jhangiani SN, Grove ML, Veeraraghavan N, Muzny DM, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 Mar; 37(3):231-4. PMID: 26670213; PMCID: PMC4752396 [Available on 03/01/17].
    97. Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Erratum to: Somatic Mosaicism: Implications for Disease and Transmission Genetics. Trends Genet. 2016 Feb; 32(2):138. PMID: 29482722.
      View in: PubMed
    98. Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7; 98(1):202-9. PMID: 26708751.
      View in: PubMed
    99. W Zuccherato L, Alleva B, Whiters MA, Carvalho CM, Lupski JR. Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet. 2016 Feb; 135(2):253-6. PMID: 26667017.
      View in: PubMed
    100. Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet. 2015 Dec; 11(12):e1005686. PMID: 26641089.
      View in: PubMed
    101. Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 3; 97(6):904-13. PMID: 26637980.
      View in: PubMed
    102. Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 Jul; 18(7):678-85. PMID: 26633545; PMCID: PMC4892996 [Available on 01/01/17].
    103. Gu S, Posey JE, Yuan B, Carvalho CM, Luk HM, Erikson K, Lo IF, Leung GK, Pickering CR, Chung BH, Lupski JR. Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat. 2016 Feb; 37(2):160-4. PMID: 26549411.
      View in: PubMed
    104. Naves LA, Daly AF, Dias LA, Yuan B, Zakir JC, Barra GB, Palmeira L, Villa C, Trivellin G, Júnior AJ, Neto FF, Liu P, Pellegata NS, Stratakis CA, Lupski JR, Beckers A. Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome. Endocrine. 2016 Feb; 51(2):236-44. PMID: 26607152.
      View in: PubMed
    105. Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 Jan; 4(1):77-94. PMID: 26788539.
      View in: PubMed
    106. Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 5; 97(5):691-707. PMID: 26544804.
      View in: PubMed
    107. Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alika?ifo?lu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 4; 88(3):499-513. PMID: 26539891.
      View in: PubMed
    108. Lee W, Xie Y, Zernant J, Yuan B, Bearelly S, Tsang SH, Lupski JR, Allikmets R. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet. 2016 Jan; 135(1):9-19. PMID: 26527198.
      View in: PubMed
    109. Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 5; 97(5):647-60. PMID: 26522471.
      View in: PubMed
    110. Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 May; 18(5):443-51. PMID: 26378787.
      View in: PubMed
    111. Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, Gilissen C, Jhangiani S, Lupski JR, Cremers FP, de Vries BB. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016 May; 24(5):660-5. PMID: 26350515.
      View in: PubMed
    112. Nageshappa S, Carromeu C, Trujillo CA, Mesci P, Espuny-Camacho I, Pasciuto E, Vanderhaeghen P, Verfaillie CM, Raitano S, Kumar A, Carvalho CM, Bagni C, Ramocki MB, Araujo BH, Torres LB, Lupski JR, Van Esch H, Muotri AR. Altered neuronal network and rescue in a human MECP2 duplication model. Mol Psychiatry. 2016 Feb; 21(2):178-88. PMID: 26347316.
      View in: PubMed
    113. Mayle R, Campbell IM, Beck CR, Yu Y, Wilson M, Shaw CA, Bjergbaek L, Lupski JR, Ira G. DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science. 2015 Aug 14; 349(6249):742-7. PMID: 26273056.
      View in: PubMed
    114. Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 Aug 18; 12(7):1169-83. PMID: 26257172.
      View in: PubMed
    115. Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2795-9. PMID: 26238661.
      View in: PubMed
    116. Veltman JA, Lupski JR. From genes to genomes in the clinic. Genome Med. 2015; 7(1):78. PMID: 26221187.
      View in: PubMed
    117. Tuysuz B, Pehlivan D, Özkök A, Jhangiani S, Yalcinkaya C, Zeybek ÇA, Muzny DM, Lupski JR, Gibbs R, Jaeken J. Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. JIMD Rep. 2016; 26:7-12. PMID: 26219881; PMCID: PMC4864711.
    118. Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 6; 97(2):199-215. PMID: 26166479.
      View in: PubMed
    119. Zhang F, Lupski JR. Non-coding genetic variants in human disease. Hum Mol Genet. 2015 Oct 15; 24(R1):R102-10. PMID: 26152199.
      View in: PubMed
    120. Lee IS, Carvalho CM, Douvaras P, Ho SM, Hartley BJ, Zuccherato LW, Ladran IG, Siegel AJ, McCarthy S, Malhotra D, Sebat J, Rapoport J, Fossati V, Lupski JR, Levy DL, Brennand KJ. Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells. NPJ Schizophr. 2015 Jun 24; 1. PMID: 26985448.
      View in: PubMed
    121. Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med. 2015; 7(1):54. PMID: 26195989.
      View in: PubMed
    122. Lodish MB, Yuan B, Levy I, Braunstein GD, Lyssikatos C, Salpea P, Szarek E, Karageorgiadis AS, Belyavskaya E, Raygada M, Faucz FR, Izatt L, Brain C, Gardner J, Quezado M, Carney JA, Lupski JR, Stratakis CA. Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. Eur J Endocrinol. 2015 Jun; 172(6):803-11. PMID: 25924874; PMCID: PMC4428149.
    123. Lupski JR. Cognitive phenotypes and genomic copy number variations. JAMA. 2015 May 26; 313(20):2029-30. PMID: 26010630.
      View in: PubMed
    124. Ramasamy R, Bak?rc?o?lu ME, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril. 2015 Aug; 104(2):286-91. PMID: 25956372.
      View in: PubMed
    125. Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77. PMID: 25908615.
      View in: PubMed
    126. Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015 Jul; 31(7):382-92. PMID: 25910407.
      View in: PubMed
    127. Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60. PMID: 25894502; PMCID: PMC4513663.
    128. Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun; 134(6):671-3. PMID: 25893792; PMCID: PMC4426057.
    129. Lupski JR. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen. 2015 Jun; 56(5):419-36. PMID: 25892534; PMCID: PMC4609214.
    130. English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, Lam ET, White S, Mishra P, Wang M, Han Y, Zhang F, Stankiewicz P, Wheeler DA, Reid JG, Muzny DM, Rogers J, Sabo A, Worley KC, Lupski JR, Boerwinkle E, Gibbs RA. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015; 16:286. PMID: 25886820.
      View in: PubMed
    131. Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A. 2015 Sep; 167A(9):2132-7. PMID: 25846457.
      View in: PubMed
    132. White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 2; 96(4):612-22. PMID: 25817016; PMCID: PMC4385180.
    133. Bosch DG, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet. 2015 Dec; 23(12):1689-93. PMID: 25804403.
      View in: PubMed
    134. Wang M, Beck CR, English AC, Meng Q, Buhay C, Han Y, Doddapaneni HV, Yu F, Boerwinkle E, Lupski JR, Muzny DM, Gibbs RA. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 2015; 16:214. PMID: 25887218; PMCID: PMC4376517.
    135. Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 2015 Apr 2; 96(4):555-64. PMID: 25799105; PMCID: PMC4385179.
    136. Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR. Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism. J Clin Endocrinol Metab. 2015 May; 100(5):E808-14. PMID: 25774885.
      View in: PubMed
    137. Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet. 2015 Mar; 11(3):e1005050. PMID: 25749076; PMCID: PMC4352052.
    138. Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6. PMID: 25736269; PMCID: PMC4522925.
    139. Beckers A, Lodish MB, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg JH, Verrua E, Naves LA, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NS, Metzger D, Castermans E, Ambrosio MR, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GB, Casulari LA, Neggers SJ, Salvatori R, Jaffrain-Rea ML, Zacharin M, Santamaria BL, Zacharieva S, Lim EM, Mantovani G, Zatelli MC, Collins MT, Bonneville JF, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, W de Herder W, Pellegata N, Lupski JR, Daly AF, Stratakis CA. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015 Jun; 22(3):353-67. PMID: 25712922; PMCID: PMC4433400.
    140. Riveiro-Álvarez R, Xie YA, López-Martínez MÁ, Gambin T, Pérez-Carro R, Ávila-Fernández A, López-Molina MI, Zernant J, Jhangiani S, Muzny D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C, Allikmets R. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb; 133(2):133-9. PMID: 25356532; PMCID: PMC4351871.
    141. Yauk CL, Aardema MJ, Benthem Jv, Bishop JB, Dearfield KL, DeMarini DM, Dubrova YE, Honma M, Lupski JR, Marchetti F, Meistrich ML, Pacchierotti F, Stewart J, Waters MD, Douglas GR. Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays(?). Mutat Res Genet Toxicol Environ Mutagen. 2015 May 1; 783:36-54. PMID: 25953399.
      View in: PubMed
    142. Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51. PMID: 25574841; PMCID: PMC4319410.
    143. Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22; 372(4):341-50. PMID: 25564734; PMCID: PMC4326244.
    144. Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 Jan; 100(1):E140-7. PMID: 25322266; PMCID: PMC4283017.
    145. Collison FT, Xie YA, Gambin T, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Fishman GA, Allikmets R. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. Ophthalmic Genet. 2015; 36(3):270-5. PMID: 25687216.
      View in: PubMed
    146. Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenický P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014 Dec 18; 371(25):2363-74. PMID: 25470569; PMCID: PMC4291174.
    147. Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol. 2014 Dec; 178(3):459-69. PMID: 25046553; PMCID: PMC4238873.
    148. de Ligt J, Boone PM, Pfundt R, Vissers LE, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing. Genom Data. 2014 Dec; 2:144-146. PMID: 26258046.
      View in: PubMed
    149. Chen L, Zhou W, Zhang C, Lupski JR, Jin L, Zhang F. CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis. Hum Mol Genet. 2015 Mar 15; 24(6):1574-83. PMID: 25398944; PMCID: PMC4381758.
    150. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9. PMID: 25326635; PMCID: PMC4326249.
    151. Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet. 2014 Nov 6; 95(5):565-78. PMID: 25439725; PMCID: PMC4225592.
    152. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6; 95(5):579-83. PMID: 25439098; PMCID: PMC4225583.
    153. Zernant J, Collison FT, Lee W, Fishman GA, Noupuu K, Yuan B, Cai C, Lupski JR, Yannuzzi LA, Tsang SH, Allikmets R. Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 Oct; 35(10):1187-94. PMID: 25066811; PMCID: PMC4283973.
    154. Liu P, Kaplan A, Yuan B, Hanna JH, Lupski JR, Reiner O. Passage number is a major contributor to genomic structural variations in mouse iPSCs. Stem Cells. 2014 Oct; 32(10):2657-67. PMID: 24965231; PMCID: PMC4165691.
    155. Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-14. PMID: 25259927; PMCID: PMC4298142.
    156. Campbell IM, Stewart JR, James RA, Lupski JR, Stankiewicz P, Olofsson P, Shaw CA. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet. 2014 Oct 2; 95(4):345-59. PMID: 25242496; PMCID: PMC4185125.
    157. Jorgez CJ, Rosenfeld JA, Wilken NR, Vangapandu HV, Sahin A, Pham D, Carvalho CM, Bandholz A, Miller A, Weaver DD, Burton B, Babu D, Bamforth JS, Wilks T, Flynn DP, Roeder E, Patel A, Cheung SW, Lupski JR, Lamb DJ. Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One. 2014; 9(9):e107028. PMID: 25203062; PMCID: PMC4159299.
    158. DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD, Batish SD, Lupski JR, Higgins JJ. The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Mol Genet Genomic Med. 2014 Nov; 2(6):522-9. PMID: 25614874; PMCID: PMC4303222.
    159. Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 Dec 20; 23(25):6797-806. PMID: 25082829; PMCID: PMC4245042.
    160. Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wi?niowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 7; 95(2):173-82. PMID: 25087610; PMCID: PMC4129404.
    161. Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol. 2014 Oct; 34(7):871-90. PMID: 25073507; PMCID: PMC4386834.
    162. Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014 Aug 7; 95(2):143-61. PMID: 25065914; PMCID: PMC4129405.
    163. de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Bouron-Dal Soglio D, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, Grundy RG, Foulkes WD. Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol. 2014 Oct; 128(4):583-95. PMID: 25022261; PMCID: PMC4381868.
    164. Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 Sep; 164A(9):2328-34. PMID: 25045128; PMCID: PMC4332576.
    165. Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 Mar; 23(3):342-6. PMID: 24986830; PMCID: PMC4326704.
    166. Gonzaga-Jauregui C, Mir S, Penney S, Jhangiani S, Midgen C, Finegold M, Muzny DM, Wang M, Bacino CA, Gibbs RA, Lupski JR, Kellermayer R, Hanchard NA. Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr. 2014 Jul; 59(1):17-21. PMID: 24614124; PMCID: PMC4203304.
    167. Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 Jul 3; 95(1):96-107. PMID: 24931394; PMCID: PMC4085583.
    168. Xie YA, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 Nov 1; 23(21):5774-80. PMID: 24916380; PMCID: PMC4189905.
    169. Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 5; 94(6):915-23. PMID: 24906020; PMCID: PMC4121478.
    170. Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014; 15:64. PMID: 24898207; PMCID: PMC4057820.
    171. Harel T, Lupski JR. Charcot-Marie-Tooth disease and pathways to molecular based therapies. Clin Genet. 2014 Nov; 86(5):422-31. PMID: 24697164.
      View in: PubMed
    172. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 1; 94(5):784-9. PMID: 24791903; PMCID: PMC4067559.
    173. Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VR. Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet. 2014 Jul; 57(7):339-44. PMID: 24769197; PMCID: PMC4065856.
    174. Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50. PMID: 24766809; PMCID: PMC4146440.
    175. Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1; 94(5):745-54. PMID: 24746959; PMCID: PMC4067552.
    176. Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar; 10(3):e1004258. PMID: 24676022; PMCID: PMC3967950.
    177. Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet. 2014 Mar 6; 94(3):462-9. PMID: 24530202; PMCID: PMC3951935.
    178. Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 6; 94(2):303-9. PMID: 24462372; PMCID: PMC3928641.
    179. Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet. 2014 Sep; 22(9):1071-6. PMID: 24424125; PMCID: PMC4135413.
    180. Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet. 2014 Sep; 22(9):1145-8. PMID: 24424126; PMCID: PMC4135405.
    181. Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78. PMID: 24398791; PMCID: PMC4350600.
    182. Klassen TL, Bomben VC, Patel A, Drabek J, Chen TT, Gu W, Zhang F, Chapman K, Lupski JR, Noebels JL, Goldman AM. High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile. Epilepsia. 2014 Feb; 55(2):e6-12. PMID: 24372310; PMCID: PMC4195652.
    183. Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A. 2014 Feb; 164A(2):500-4. PMID: 24311450.
      View in: PubMed
    184. Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8. PMID: 24126608; PMCID: PMC4039291.
    185. Euteneuer J, Carvalho CM, Kulkarni S, Vineyard M, Grady RM, Lupski JR, Shinawi M. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. Clin Genet. 2014 Nov; 86(5):487-91. PMID: 24246242.
      View in: PubMed
    186. Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CM, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-94. PMID: 24136616; PMCID: PMC4224029.
    187. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11. PMID: 24088041; PMCID: PMC4211433.
    188. Peters SU, Hundley RJ, Wilson AK, Carvalho CM, Lupski JR, Ramocki MB. Brief report: regression timing and associated features in MECP2 duplication syndrome. J Autism Dev Disord. 2013 Oct; 43(10):2484-90. PMID: 23456562.
      View in: PubMed
    189. Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, Ramocki MB, Shaw CA. Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797. PMID: 24086149; PMCID: PMC3784560.
    190. Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR. Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 Nov; 45(11):1319-26. PMID: 24056715; PMCID: PMC3821386.
    191. de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 Oct; 34(10):1439-48. PMID: 23893877.
      View in: PubMed
    192. Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 Dec; 161A(12):3182-6. PMID: 23956205; PMCID: PMC3926511.
    193. Lupski JR. Genetics. Genome mosaicism--one human, multiple genomes. Science. 2013 Jul 26; 341(6144):358-9. PMID: 23888031.
      View in: PubMed
    194. Green RC, Lupski JR, Biesecker LG. Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA. 2013 Jul 24; 310(4):365-6. PMID: 23917280; PMCID: PMC3963427.
    195. Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 Aug 8; 93(2):357-67. PMID: 23849778; PMCID: PMC3738828.
    196. Okamoto Y, Pehlivan D, Wiszniewski W, Beck CR, Snipes GJ, Lupski JR, Khajavi M. Curcumin facilitates a transitory cellular stress response in Trembler-J mice. Hum Mol Genet. 2013 Dec 1; 22(23):4698-705. PMID: 23847051; PMCID: PMC3820132.
    197. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 8; 93(2):197-210. PMID: 23810381; PMCID: PMC3738832.
    198. Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med. 2013; 5(6):57. PMID: 23806086; PMCID: PMC3706849.
    199. Maizels N, Lupski JR. Molecular and genetic bases of disease. Curr Opin Genet Dev. 2013 Jun; 23(3):229-31. PMID: 23790955.
      View in: PubMed
    200. Lacaria M, Gu W, Lupski JR. Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1. Am J Med Genet A. 2013 Jul; 161A(7):1561-8. PMID: 23703963; PMCID: PMC4086898.
    201. Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87. PMID: 23695279; PMCID: PMC3865406.
    202. Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94. PMID: 23685542; PMCID: PMC3759716.
    203. Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409. PMID: 23657883; PMCID: PMC3759717.
    204. Jensen PW, Falconi M, Kristoffersen EL, Simonsen AT, Cifuentes JB, Marcussen LB, Frøhlich R, Vagner J, Harmsen C, Juul S, Ho YP, Withers MA, Lupski JR, Koch J, Desideri A, Knudsen BR, Stougaard M. Real-time detection of TDP1 activity using a fluorophore-quencher coupled DNA-biosensor. Biosens Bioelectron. 2013 Oct 15; 48:230-7. PMID: 23693093.
      View in: PubMed
    205. Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E. Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet. 2013; 9(3):e1003358. PMID: 23516377; PMCID: PMC3597517.
    206. Zhou W, Zhang F, Chen X, Shen Y, Lupski JR, Jin L. Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms. Hum Mol Genet. 2013 Jul 1; 22(13):2642-51. PMID: 23474816; PMCID: PMC3674805.
    207. Harris RA, Shaw C, Li J, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Chinault AC, Gambin T, Gambin A, Lupski JR, Milosavljevic A. Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability. PLoS Genet. 2013; 9(2):e1003333. PMID: 23468659; PMCID: PMC3585018.
    208. Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013; 5(2):11. PMID: 23383720; PMCID: PMC3707024.
    209. Auffray C, Caulfield T, Khoury MJ, Lupski JR, Schwab M, Veenstra T. 2012 highlights in translational 'omics. Genome Med. 2013; 5(1):10. PMID: 23369291; PMCID: PMC3707050.
    210. Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, Frazer KA, Korf B, Ledbetter DH, Lupski JR, Marsh C, Mrazek D, Murray MF, O'Donnell PH, Rader DJ, Relling MV, Shuldiner AR, Valle D, Weinshilboum R, Green ED, Ginsburg GS. Implementing genomic medicine in the clinic: the future is here. Genet Med. 2013 Apr; 15(4):258-67. PMID: 23306799; PMCID: PMC3835144.
    211. Lacaria M, Gu W, Lupski JR. A functional role for structural variation in metabolism. Adipocyte. 2013 Jan 01; 2(1):55-57. PMID: 23700554.
      View in: PubMed
    212. Bi W, Borgan C, Pursley AN, Hixson P, Shaw CA, Bacino CA, Lalani SR, Patel A, Stankiewicz P, Lupski JR, Beaudet AL, Cheung SW. Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med. 2013 Jun; 15(6):450-7. PMID: 23238528.
      View in: PubMed
    213. Lupski JR. Digenic inheritance and Mendelian disease. Nat Genet. 2012 Dec; 44(12):1291-2. PMID: 23192179.
      View in: PubMed
    214. Li Y, Shaw CA, Sheffer I, Sule N, Powell SZ, Dawson B, Zaidi SN, Bucasas KL, Lupski JR, Wilhelmsen KC, Doody R, Szigeti K. Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease. Transl Psychiatry. 2012; 2:e192. PMID: 23168992; PMCID: PMC3565761.
    215. Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB. The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism. Autism Res. 2013 Feb; 6(1):42-50. PMID: 23169761; PMCID: PMC3578988.
    216. Sun Z, Liu P, Jia X, Withers MA, Jin L, Lupski JR, Zhang F. Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome. Hum Mol Genet. 2013 Feb 15; 22(4):749-56. PMID: 23161748; PMCID: PMC3554201.
    217. Lupski JR. Brain copy number variants and neuropsychiatric traits. Biol Psychiatry. 2012 Oct 15; 72(8):617-9. PMID: 22999336.
      View in: PubMed
    218. Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A. Inverted low-copy repeats and genome instability--a genome-wide analysis. Hum Mutat. 2013 Jan; 34(1):210-20. PMID: 22965494; PMCID: PMC3738003.
    219. Vester A, Velez-Ruiz G, McLaughlin HM. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat. 2013 Jan; 34(1):191-9. PMID: 22930593; PMCID: PMC3535524.
    220. Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. J Med Genet. 2012 Nov; 49(11):681-8. PMID: 23042811.
      View in: PubMed
    221. Riccardi VM, Lupski JR. Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic. Genet Med. 2013 Mar; 15(3):172-3. PMID: 23037932.
      View in: PubMed
    222. Heck DH, Gu W, Cao Y, Qi S, Lacaria M, Lupski JR. Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior. Am J Med Genet A. 2012 Nov; 158A(11):2807-14. PMID: 22991245; PMCID: PMC3477298.
    223. Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu YQ, Wang M, McGuire AL, Lupski JR, Gibbs RA, Brown CW. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 May; 83(5):457-61. PMID: 22901280; PMCID: PMC3926310.
    224. Migdalska AM, van der Weyden L, Ismail O. Generation of the Sotos syndrome deletion in mice. Mamm Genome. 2012 Dec; 23(11-12):749-57. PMID: 22926222; PMCID: PMC3510424.
    225. Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81. PMID: 22929023; PMCID: PMC3548268.
    226. Yauk CL, Lucas Argueso J, Auerbach SS, Awadalla P, Davis SR, Demarini DM, Douglas GR, Dubrova YE, Elespuru RK, Glover TW, Hales BF, Hurles ME, Klein CB, Lupski JR, Manchester DK, Marchetti F, Montpetit A, Mulvihill JJ, Robaire B, Robbins WA, Rouleau GA, Shaughnessy DT, Somers CM, Taylor JG, Trasler J, Waters MD, Wilson TE, Witt KL, Bishop JB. Harnessing genomics to identify environmental determinants of heritable disease. Mutat Res. 2013 Jan-Mar; 752(1):6-9. PMID: 22935230; PMCID: PMC3556182.
    227. Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM. DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Genet. 2012 Sep 7; 91(3):444-54. PMID: 22901949; PMCID: PMC3511999.
    228. Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet. 2012 Dec; 131(12):1895-910. PMID: 22890305; PMCID: PMC3493700.
    229. Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. BMC Med Genet. 2012; 13:71. PMID: 22883432; PMCID: PMC3575261.
    230. Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54. PMID: 22878507; PMCID: PMC3705759.
    231. Benito-Sanz S, Royo JL, Barroso E, Paumard-Hernández B, Barreda-Bonis AC, Liu P, Gracía R, Lupski JR, Campos-Barros Á, Gómez-Skarmeta JL, Heath KE. Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet. 2012 Jul; 49(7):442-50. PMID: 22791839.
      View in: PubMed
    232. Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012 Oct; 14(10):868-76. PMID: 22722545; PMCID: PMC3713627.
    233. Lacaria M, Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Elsea S, Walz K, Chan L, Lupski JR, Gu W. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet. 2012; 8(5):e1002713. PMID: 22654670; PMCID: PMC3359973.
    234. Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A. 2012 Jul; 158A(7):1523-5. PMID: 22628075; PMCID: PMC3702263.
    235. Li J, Harris RA, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Shaw C, Chinault AC, Gambin T, Gambin A, Lupski JR, Milosavljevic A. Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. PLoS Genet. 2012; 8(5):e1002692. PMID: 22615578; PMCID: PMC3355074.
    236. Bien-Willner GA, López-Terrada D, Bhattacharjee MB, Patel KU, Stankiewicz P, Lupski JR, Pfeifer JD, Perry A. Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement. Neuro Oncol. 2012 Jul; 14(7):831-40. PMID: 22573308; PMCID: PMC3379796.
    237. Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 1; 21(15):3345-55. PMID: 22543972; PMCID: PMC3392111.
    238. Lacaria M, Spencer C, Gu W, Paylor R, Lupski JR. Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet. 2012 Jul 15; 21(14):3083-96. PMID: 22492990; PMCID: PMC3384379.
    239. Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61. PMID: 22467166.
      View in: PubMed
    240. Liu P, Carvalho CM, Hastings PJ, Lupski JR. Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev. 2012 Jun; 22(3):211-20. PMID: 22440479; PMCID: PMC3378805.
    241. Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease. Clin Genet. 2013 Jan; 83(1):66-72. PMID: 22283455; PMCID: PMC3381985.
    242. Auffray C, Caulfield T, Khoury MJ, Lupski JR, Schwab M, Veenstra T. Looking back at genomic medicine in 2011. Genome Med. 2012; 4(1):9. PMID: 22293121; PMCID: PMC3334557.
    243. Gasser SM, Lupski JR, Le Cam Y, Menzel O. Leap year: Rare day to highlight rare diseases. Nature. 2012 Jan 19; 481(7381):265. PMID: 22258596.
      View in: PubMed
    244. Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med. 2012 Mar; 14(3):313-22. PMID: 22241092; PMCID: PMC3556738.
    245. Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med. 2012; 63:35-61. PMID: 22248320; PMCID: PMC3656720.
    246. Bi W, Breman A, Shaw CA, Stankiewicz P, Gambin T, Lu X, Cheung SW, Jackson LG, Lupski JR, Van den Veyver IB, Beaudet AL. Detection of ?1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20. PMID: 22470934.
      View in: PubMed
    247. Simmons AD, Carvalho CM, Lupski JR. What have studies of genomic disorders taught us about our genome? Methods Mol Biol. 2012; 838:1-27. PMID: 22228005.
      View in: PubMed
    248. Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40. PMID: 22219648; PMCID: PMC3250376.
    249. McLaughlin HM, Sakaguchi R, Giblin W. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat. 2012 Jan; 33(1):244-53. PMID: 22009580; PMCID: PMC3240693.
    250. Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L. Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med. 2012 Jan; 14(1):90-4. PMID: 22237436; PMCID: PMC3666919.
    251. Liu P, Lacaria M, Zhang F, Withers M, Hastings PJ, Lupski JR. Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet. 2011 Oct 7; 89(4):580-8. PMID: 21981782; PMCID: PMC3188830.
    252. Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Nov; 43(11):1074-81. PMID: 21964572; PMCID: PMC3235474.
    253. Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30; 147(1):32-43. PMID: 21962505; PMCID: PMC3656718.
    254. Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 Dec; 32(12):1450-9. PMID: 21901789; PMCID: PMC3943164.
    255. Liu P, Erez A, Nagamani SC, Dhar SU, Ko?odziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903. PMID: 21925314; PMCID: PMC3242451.
    256. Outwin E, Carpenter G, Bi W, Withers MA, Lupski JR, O'Driscoll M. Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. PLoS Genet. 2011 Aug; 7(8):e1002247. PMID: 21901111; PMCID: PMC3161930.
    257. Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L. Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. Am J Med Genet A. 2011 Aug; 155A(8):2024-7. PMID: 21739587; PMCID: PMC3140606.
    258. Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR. Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. Clin Genet. 2012 Jun; 81(6):532-41. PMID: 21623770; PMCID: PMC3470482.
    259. Cheung HC, Yatsenko SA, Kadapakkam M, Legay H, Su J, Lupski JR, Plon SE. Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma. Pediatr Blood Cancer. 2012 May; 58(5):801-5. PMID: 21681934; PMCID: PMC3202030.
    260. Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA. Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 Jun 15; 3(87):87re3. PMID: 21677200; PMCID: PMC3314311.
    261. Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med. 2011 Jun; 13(6):582-92. PMID: 21659953; PMCID: PMC3407413.
    262. Boone PM, Wiszniewski W, Lupski JR. Genomic medicine and neurological disease. Hum Genet. 2011 Jul; 130(1):103-21. PMID: 21594611; PMCID: PMC3133694.
    263. Chinen J, Martinez-Gallo M, Gu W, Cols M, Cerutti A, Radigan L, Zhang L, Potocki L, Withers M, Lupski JR, Cunningham-Rundles C. Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. J Allergy Clin Immunol. 2011 Jun; 127(6):1579-86. PMID: 21514638; PMCID: PMC3428026.
    264. Shaw CA, Li Y, Wiszniewska J, Chasse S, Zaidi SN, Jin W, Dawson B, Wilhelmsen K, Lupski JR, Belmont JW, Doody RS, Szigeti K. Olfactory copy number association with age at onset of Alzheimer disease. Neurology. 2011 Apr 12; 76(15):1302-9. PMID: 21482944; PMCID: PMC3090061.
    265. Leitão-Gonçalves R, Ermanoska B, Jacobs A, De Vriendt E, Timmerman V, Lupski JR, Callaerts P, Jordanova A. Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. Amino Acids. 2012 May; 42(5):1661-8. PMID: 21384131.
      View in: PubMed
    266. Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88. PMID: 21355048; PMCID: PMC3080608.
    267. Auffray C, Caulfield T, Khoury MJ, Lupski JR, Schwab M, Veenstra T. Genome Medicine: past, present and future. Genome Med. 2011; 3(1):6. PMID: 21345269; PMCID: PMC3092091.
    268. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8. PMID: 21248748; PMCID: PMC3060324.
    269. Carvalho CM, Zhang F, Lupski JR. Structural variation of the human genome: mechanisms, assays, and role in male infertility. Syst Biol Reprod Med. 2011 Feb; 57(1-2):3-16. PMID: 21210740; PMCID: PMC3179416.
    270. Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46. PMID: 21205869; PMCID: PMC3012924.
    271. Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L. Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr. 2011 Apr; 158(4):655-659.e2. PMID: 21168152; PMCID: PMC3059370.
    272. Antonellis A, Dennis MY, Burzynski G, Huynh J, Maduro V, Hodonsky CJ, Khajavi M, Szigeti K, Mukkamala S, Bessling SL, Pavan WJ, McCallion AS, Lupski JR, Green ED. A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. PLoS One. 2010; 5(12):e14346. PMID: 21179557; PMCID: PMC3002941.
    273. Wiszniewski W, Lewis RA, Stockton DW, Peng J, Mardon G, Chen R, Lupski JR. Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Hum Genet. 2011 Mar; 129(3):319-27. PMID: 21153841; PMCID: PMC3625363.
    274. Lupski JR. New mutations and intellectual function. Nat Genet. 2010 Dec; 42(12):1036-8. PMID: 21102619.
      View in: PubMed
    275. Ricard G, Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, Schütz F, Young JI, Lupski JR, Reymond A, Walz K. Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol. 2010; 8(11):e1000543. PMID: 21124890; PMCID: PMC2990707.
    276. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42. PMID: 20848651; PMCID: PMC3158569.
    277. McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet. 2010 Oct 8; 87(4):560-6. PMID: 20920668; PMCID: PMC2948804.
    278. El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW. Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med. 2010 Sep; 12(9):573-86. PMID: 20860070.
      View in: PubMed
    279. Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet. 2010 Nov-Dec; 53(6):378-82. PMID: 20727427.
      View in: PubMed
    280. Lupski JR. Interruption of SOX10 function in myelinopathies. Ann Neurol. 2010 Aug; 68(2):121-3. PMID: 20695004.
      View in: PubMed
    281. Lupski JR. Retrotransposition and structural variation in the human genome. Cell. 2010 Jun 25; 141(7):1110-2. PMID: 20602993.
      View in: PubMed
    282. Gonzaga-Jauregui C, Zhang F, Towne CF, Batish SD, Lupski JR. GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. Neurogenetics. 2010 Oct; 11(4):465-70. PMID: 20532933; PMCID: PMC4222676.
    283. Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010 Jun 11; 86(6):892-903. PMID: 20493460; PMCID: PMC3032071.
    284. Shchelochkov OA, Cheung SW, Lupski JR. Genomic and clinical characteristics of microduplications in chromosome 17. Am J Med Genet A. 2010 May; 152A(5):1101-10. PMID: 20425816.
      View in: PubMed
    285. Kang SH, Shaw C, Ou Z, Eng PA, Cooper ML, Pursley AN, Sahoo T, Bacino CA, Chinault AC, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A. 2010 May; 152A(5):1111-26. PMID: 20340098; PMCID: PMC3726029.
    286. McGuire AL, Lupski JR. Personal genome research : what should the participant be told? Trends Genet. 2010 May; 26(5):199-201. PMID: 20381895; PMCID: PMC2868334.
    287. Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 1; 362(13):1181-91. PMID: 20220177; PMCID: PMC4036802.
    288. Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet. 2010 Mar 12; 86(3):462-70. PMID: 20188345; PMCID: PMC2833368.
    289. Carvalho CM, Zhang F, Lupski JR. Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A. 2010 Jan 26; 107 Suppl 1:1765-71. PMID: 20080665; PMCID: PMC2868291.
    290. Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med. 2010; 61:437-55. PMID: 20059347.
      View in: PubMed
    291. Boles MK, Wilkinson BM, Wilming LG, Liu B, Probst FJ, Harrow J, Grafham D, Hentges KE, Woodward LP, Maxwell A, Mitchell K, Risley MD, Johnson R, Hirschi K, Lupski JR, Funato Y, Miki H, Marin-Garcia P, Matthews L, Coffey AJ, Parker A, Hubbard TJ, Rogers J, Bradley A, Adams DJ, Justice MJ. Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. PLoS Genet. 2009 Dec; 5(12):e1000759. PMID: 20011118; PMCID: PMC2782131.
    292. Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec; 66(6):771-82. PMID: 20035514; PMCID: PMC2801873.
    293. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41. PMID: 19914906; PMCID: PMC3158566.
    294. Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet. 2010 Feb; 18(2):258-61. PMID: 19844260; PMCID: PMC2987195.
    295. Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Stassart RM, Zu Horste GM, Nave KA, Reis A, Rautenstrauss B. Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics. 2009 Oct; 10(4):375-376. PMID: 25488817.
      View in: PubMed
    296. Hastings PJ, Lupski JR, Rosenberg SM, Ira G. Mechanisms of change in gene copy number. Nat Rev Genet. 2009 Aug; 10(8):551-64. PMID: 19597530; PMCID: PMC2864001.
    297. Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33. PMID: 19584063.
      View in: PubMed
    298. El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct; 126(4):589-602. PMID: 19557438; PMCID: PMC3669685.
    299. Zhang F, Carvalho CM, Lupski JR. Complex human chromosomal and genomic rearrangements. Trends Genet. 2009 Jul; 25(7):298-307. PMID: 19560228; PMCID: PMC4464790.
    300. Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet. 2009 Jul; 41(7):849-53. PMID: 19543269; PMCID: PMC4461229.
    301. Lupski JR. Genomic disorders ten years on. Genome Med. 2009; 1(4):42. PMID: 19439022; PMCID: PMC2684663.
    302. Yatsenko SA, Shaw CA, Ou Z, Pursley AN, Patel A, Bi W, Cheung SW, Lupski JR, Chinault AC, Beaudet AL. Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. J Mol Diagn. 2009 May; 11(3):226-37. PMID: 19324990; PMCID: PMC2671340.
    303. Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203. PMID: 19324899; PMCID: PMC2685756.
    304. Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Sereda M, Stassart RM, Meyer zu Horste G, Nave KA, Reis A, Rautenstrauss B. Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics. 2009 Oct; 10(4):275-87. PMID: 19290556; PMCID: PMC2847151.
    305. Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR. Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet. 2009 Jun 1; 18(11):1924-36. PMID: 19293338; PMCID: PMC2678925.
    306. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009 Jun; 46(6):382-8. PMID: 19289393; PMCID: PMC2776649.
    307. Gu W, Lupski JR. CNV and nervous system diseases--what's new? Cytogenet Genome Res. 2008; 123(1-4):54-64. PMID: 19287139; PMCID: PMC2920183.
    308. Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. Eur J Hum Genet. 2009 Jun; 17(6):703-10. PMID: 19277060; PMCID: PMC2947101.
    309. Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet. 2009 Mar; 84(3):380-7. PMID: 19268277; PMCID: PMC2668010.
    310. Ben-Shachar S, Khajavi M, Withers MA, Shaw CA, van Bokhoven H, Brunner HG, Lupski JR. Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? Clin Genet. 2009 Apr; 75(4):394-400. PMID: 19236432.
      View in: PubMed
    311. Hastings PJ, Ira G, Lupski JR. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet. 2009 Jan; 5(1):e1000327. PMID: 19180184; PMCID: PMC2621351.
    312. Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009 Feb; 41(2):168-77. PMID: 19136950; PMCID: PMC4396744.
    313. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ. Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. PM R. 2009 Jan; 1(1):14-22. PMID: 19627868.
      View in: PubMed
    314. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ. Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Muscle Nerve. 2009 Jan; 39(1):116-25. PMID: 19086068.
      View in: PubMed
    315. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ. Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. PM R. 2009 Jan; 1(1):5-13. PMID: 19627867.
      View in: PubMed
    316. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39. PMID: 19012303; PMCID: PMC3665952.
    317. Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet. 2009; 10:451-81. PMID: 19715442; PMCID: PMC4472309.
    318. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ. Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Muscle Nerve. 2009 Jan; 39(1):106-15. PMID: 19086069.
      View in: PubMed
    319. Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet. 2009 Sep; 46(9):626-34. PMID: 19052029; PMCID: PMC4302738.
    320. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ. Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology. 2009 Jan 13; 72(2):185-92. PMID: 19056666.
      View in: PubMed
    321. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ. Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology. 2009 Jan 13; 72(2):177-84. PMID: 19056667.
      View in: PubMed
    322. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71. PMID: 19029900; PMCID: PMC2680128.
    323. Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, Sahoo T, Bacino CA, Stankiewicz P, Kang SH, Lalani S, Chinault AC, Lupski JR, Cheung SW, Beaudet AL. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec; 122(6):1310-8. PMID: 19047251; PMCID: PMC2795566.
    324. Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L, Coldwell J, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet. 2009 May; 17(5):573-81. PMID: 19034313; PMCID: PMC2986272.
    325. Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics. 2008; 1(1):4. PMID: 19014668; PMCID: PMC2583991.
    326. Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, Lupski JR, Mardon G, Chen R. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci. 2009 Mar; 50(3):1336-43. PMID: 18936139; PMCID: PMC2695987.
    327. Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75. PMID: 18812404; PMCID: PMC2680125.
    328. Lupski JR. Schizophrenia: Incriminating genomic evidence. Nature. 2008 Sep 11; 455(7210):178-9. PMID: 18784712.
      View in: PubMed
    329. Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008 Sep 1; 146A(17):2242-51. PMID: 18663743; PMCID: PMC2680131.
    330. Carvalho CM, Lupski JR. Copy number variation at the breakpoint region of isochromosome 17q. Genome Res. 2008 Nov; 18(11):1724-32. PMID: 18714090; PMCID: PMC2577857.
    331. Molina J, Carmona-Mora P, Chrast J, Krall PM, Canales CP, Lupski JR, Reymond A, Walz K. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Hum Mol Genet. 2008 Aug 15; 17(16):2486-95. PMID: 18469339.
      View in: PubMed
    332. Lupski JR. Allan Award Introduction: Arthur L. Beaudet. Am J Hum Genet. 2008 May; 82(5):1032-3. PMID: 18610510; PMCID: PMC2427270.
    333. Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A. 2008 May 6; 105(18):6714-9. PMID: 18443298; PMCID: PMC2373327.
    334. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6. PMID: 18421352.
      View in: PubMed
    335. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. PMID: 18414210.
      View in: PubMed
    336. Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, Vincent MC, Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-Martineau O, Cuisset JM, Vallee L, Manouvrier-Hanu S, Gaillard D, de Martinville B. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. Am J Med Genet A. 2008 Apr 1; 146A(7):917-24. PMID: 18327785.
      View in: PubMed
    337. Khajavi M, Lupski JR. Balancing between adaptive and maladaptive cellular stress responses in peripheral neuropathy. Neuron. 2008 Feb 7; 57(3):329-30. PMID: 18255024.
      View in: PubMed
    338. Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21. PMID: 18179902; PMCID: PMC2253964.
    339. Lee JA, Carvalho CM, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 2007 Dec 28; 131(7):1235-47. PMID: 18160035.
      View in: PubMed
    340. Lupski JR. An evolution revolution provides further revelation. Bioessays. 2007 Dec; 29(12):1182-4. PMID: 18008371.
      View in: PubMed
    341. Abd-El-Barr MM, Sykoudis K, Andrabi S, Eichers ER, Pennesi ME, Tan PL, Wilson JH, Katsanis N, Lupski JR, Wu SM. Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Vision Res. 2007 Dec; 47(27):3394-407. PMID: 18022666; PMCID: PMC2661240.
    342. Simovich MJ, Yatsenko SA, Kang SH, Cheung SW, Dudek ME, Pursley A, Ward PA, Patel A, Lupski JR. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Prenat Diagn. 2007 Dec; 27(12):1112-7. PMID: 17849500.
      View in: PubMed
    343. Kabzi?ska D, Saifi GM, Drac H, Rowi?ska-Marci?ska K, Hausmanowa-Petrusewicz I, Kocha?ski A, Lupski JR. Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. Acta Myol. 2007 Oct; 26(2):108-11. PMID: 18421898; PMCID: PMC2949579.
    344. Inoue K, Ohyama T, Sakuragi Y, Yamamoto R, Inoue NA, Yu LH, Li-Hua Y, Goto Y, Wegner M, Lupski JR. Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. Hum Mol Genet. 2007 Dec 15; 16(24):3037-46. PMID: 17855451.
      View in: PubMed
    345. Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos SCh, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics. 2007 Nov; 8(4):257-62. PMID: 17717711.
      View in: PubMed
    346. Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet. 2007 Sep; 81(3):438-53. PMID: 17701891; PMCID: PMC1950845.
    347. Babcock M, Yatsenko S, Hopkins J, Brenton M, Cao Q, de Jong P, Stankiewicz P, Lupski JR, Sikela JM, Morrow BE. Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Hum Mol Genet. 2007 Nov 1; 16(21):2560-71. PMID: 17675367.
      View in: PubMed
    348. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 1; 143A(15):1679-86. PMID: 17607705.
      View in: PubMed
    349. Lupski JR. Genomic rearrangements and sporadic disease. Nat Genet. 2007 Jul; 39(7 Suppl):S43-7. PMID: 17597781.
      View in: PubMed
    350. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41. PMID: 17666889.
      View in: PubMed
    351. Gherman A, Chen PE, Teslovich TM, Stankiewicz P, Withers M, Kashuk CS, Chakravarti A, Lupski JR, Cutler DJ, Katsanis N. Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet. 2007 Jul; 3(7):e119. PMID: 17658953; PMCID: PMC1925129.
    352. Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 5; 448(7149):68-72. PMID: 17572665; PMCID: PMC2271033.
    353. Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin Genet. 2007 Jun; 71(6):540-50. PMID: 17539903.
      View in: PubMed
    354. Bi W, Yan J, Shi X, Yuva-Paylor LA, Antalffy BA, Goldman A, Yoo JW, Noebels JL, Armstrong DL, Paylor R, Lupski JR. Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. Hum Mol Genet. 2007 Aug 1; 16(15):1802-13. PMID: 17517686.
      View in: PubMed
    355. Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug; 122(1):63-70. PMID: 17503084.
      View in: PubMed
    356. Completing the map of human genetic variation. Nature. 2007 May 10; 447(7141):161-5. PMID: 17495918; PMCID: PMC2685471.
    357. Magner DB, Blankschien MD, Lee JA, Pennington JM, Lupski JR, Rosenberg SM. RecQ promotes toxic recombination in cells lacking recombination intermediate-removal proteins. Mol Cell. 2007 Apr 27; 26(2):273-86. PMID: 17466628; PMCID: PMC2881834.
    358. Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet. 2007 Jul; 121(6):697-709. PMID: 17457615; PMCID: PMC1914245.
    359. Bien-Willner GA, Stankiewicz P, Lupski JR. SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Hum Mol Genet. 2007 May 15; 16(10):1143-56. PMID: 17409199.
      View in: PubMed
    360. Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007; 2(3):e327. PMID: 17389918; PMCID: PMC1828620.
    361. Lupski JR. Structural variation in the human genome. N Engl J Med. 2007 Mar 15; 356(11):1169-71. PMID: 17360997.
      View in: PubMed
    362. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49. PMID: 17357070; PMCID: PMC1852712.
    363. Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr; 80(4):616-32. PMID: 17357069; PMCID: PMC1852714.
    364. Babcock M, Yatsenko S, Stankiewicz P, Lupski JR, Morrow BE. AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res. 2007 Apr; 17(4):451-60. PMID: 17284672; PMCID: PMC1832092.
    365. Wiszniewski W, Lewis RA, Lupski JR. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet. 2007 May; 121(3-4):433-9. PMID: 17265047.
      View in: PubMed
    366. Yan J, Bi W, Lupski JR. Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. Am J Hum Genet. 2007 Mar; 80(3):518-25. PMID: 17273973; PMCID: PMC1821110.
    367. Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, Yatsenko SA, Lupski JR, Lane AH, Shanske AL, Stankiewicz P, Scherer G. Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet. 2007 Jan; 71(1):67-75. PMID: 17204049.
      View in: PubMed
    368. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92. PMID: 17172942.
      View in: PubMed
    369. Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR. RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; 140(22):2454-63. PMID: 17041942.
      View in: PubMed
    370. Walz K, Paylor R, Yan J, Bi W, Lupski JR. Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). J Clin Invest. 2006 Nov; 116(11):3035-41. PMID: 17024248; PMCID: PMC1590269.
    371. Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron. 2006 Oct 5; 52(1):103-21. PMID: 17015230.
      View in: PubMed
    372. Lindsay SJ, Khajavi M, Lupski JR, Hurles ME. A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet. 2006 Nov; 79(5):890-902. PMID: 17033965; PMCID: PMC1698570.
    373. Lupski JR. Genome structural variation and sporadic disease traits. Nat Genet. 2006 Sep; 38(9):974-6. PMID: 16941003.
      View in: PubMed
    374. Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J. Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet A. 2006 Jul 15; 140(14):1531-41. PMID: 16770807.
      View in: PubMed
    375. Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR. Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Hum Genet. 2006 Sep; 120(2):211-26. PMID: 16794820.
      View in: PubMed
    376. Ou Z, Jarmuz M, Sparagana SP, Michaud J, Décarie JC, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet. 2006 Sep; 120(2):227-37. PMID: 16791615.
      View in: PubMed
    377. Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet. 2006 Jul 15; 15(14):2250-65. PMID: 16774974.
      View in: PubMed
    378. Khajavi M, Inoue K, Lupski JR. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet. 2006 Oct; 14(10):1074-81. PMID: 16757948.
      View in: PubMed
    379. Madduri N, Peters SU, Voigt RG, Llorente AM, Lupski JR, Potocki L. Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr. 2006 Jun; 27(3):188-92. PMID: 16775514.
      View in: PubMed
    380. Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006 Aug; 129(Pt 8):2093-102. PMID: 16714318.
      View in: PubMed
    381. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20; 440(7087):1045-9. PMID: 16625196; PMCID: PMC2610434.
    382. Bidinost C, Hernandez N, Edward DP, Al-Rajhi A, Lewis RA, Lupski JR, Stockton DW, Bejjani BA. Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans. Invest Ophthalmol Vis Sci. 2006 Apr; 47(4):1486-90. PMID: 16565383.
      View in: PubMed
    383. Stankiewicz P, Kuechler A, Eller CD, Sahoo T, Baldermann C, Lieser U, Hesse M, Gläser C, Hagemann M, Yatsenko SA, Liehr T, Horsthemke B, Claussen U, Marahrens Y, Lupski JR, Hansmann I. Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Am J Med Genet A. 2006 Mar 1; 140(5):442-52. PMID: 16470732.
      View in: PubMed
    384. Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006 Feb; 59(2):358-64. PMID: 16437560.
      View in: PubMed
    385. Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol. 2006 Feb; 59(2):398-403. PMID: 16374829.
      View in: PubMed
    386. Goldman AM, Potocki L, Walz K, Lynch JK, Glaze DG, Lupski JR, Noebels JL. Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J Child Neurol. 2006 Feb; 21(2):93-8. PMID: 16566870.
      View in: PubMed
    387. Szigeti K, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med. 2006 Feb; 8(2):86-92. PMID: 16481890.
      View in: PubMed
    388. Stankiewicz P, Lupski JR. The genomic basis of disease, mechanisms and assays for genomic disorders. Genome Dyn. 2006; 1:1-16. PMID: 18724050.
      View in: PubMed
    389. Szigeti K, Nelis E, Lupski JR. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromolecular Med. 2006; 8(1-2):243-54. PMID: 16775379.
      View in: PubMed
    390. Timmerman V, Lupski JR, De Jonghe P. Molecular genetics, biology, and therapy for inherited peripheral neuropathies. Neuromolecular Med. 2006; 8(1-2):1-2. PMID: 16775363.
      View in: PubMed
    391. Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diagn. 2005 Dec; 25(13):1188-91. PMID: 16353282.
      View in: PubMed
    392. Tonk VS, Wilson GN, Yatsenko SA, Stankiewicz P, Lupski JR, Schutt RC, Northup JK, Velagaleti GV. Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype. Am J Med Genet A. 2005 Dec 1; 139A(2):136-40. PMID: 16278888.
      View in: PubMed
    393. Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 2005 Dec; 1(6):e49. PMID: 16444292; PMCID: PMC1352149.
    394. Borg K, Stankiewicz P, Bocian E, Kruczek A, Obersztyn E, Lupski JR, Mazurczak T. Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. Hum Genet. 2005 Nov; 118(2):267-75. PMID: 16160854.
      View in: PubMed
    395. Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet. 2005 Dec 15; 14(24):3865-75. PMID: 16269441.
      View in: PubMed
    396. Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. Am J Med Genet A. 2005 Oct 1; 138A(2):175-80. PMID: 16152635.
      View in: PubMed
    397. Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR. Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet. 2005 Nov; 77(5):841-50. PMID: 16252242; PMCID: PMC1271391.
    398. Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet. 2005 Oct; 37(10):1135-40. PMID: 16170314.
      View in: PubMed
    399. Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. Am J Med Genet A. 2005 Sep 15; 138(1):11-7. PMID: 16097007.
      View in: PubMed
    400. Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med. 2005 Sep; 7(7):479-83. PMID: 16170239.
      View in: PubMed
    401. Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR. ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Hum Mol Genet. 2005 Oct 1; 14(19):2769-78. PMID: 16103129.
      View in: PubMed
    402. Bien-Willner GA, Stankiewicz P, Lupski JR, Northup JK, Velagaleti GV. Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis. Am J Hematol. 2005 Aug; 79(4):309-13. PMID: 16044457.
      View in: PubMed
    403. Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005 Jul-Aug; 7(6):422-32. PMID: 16024975.
      View in: PubMed
    404. Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet. 2005 Apr; 42(4):328-35. PMID: 15805160; PMCID: PMC1736036.
    405. Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat. 2005 Apr; 25(4):372-83. PMID: 15776429.
      View in: PubMed
    406. Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet. 2005 Apr; 42(4):358-65. PMID: 15805163; PMCID: PMC1736030.
    407. Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, Lupski JR. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet. 2005 Apr 15; 14(8):983-95. PMID: 15746153.
      View in: PubMed
    408. El-Khamisy SF, Saifi GM, Weinfeld M, Johansson F, Helleday T, Lupski JR, Caldecott KW. Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature. 2005 Mar 3; 434(7029):108-13. PMID: 15744309.
      View in: PubMed
    409. Mishaan AM, Mason EO, Martinez-Aguilar G, Hammerman W, Propst JJ, Lupski JR, Stankiewicz P, Kaplan SL, Hulten K. Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, Texas. Pediatr Infect Dis J. 2005 Mar; 24(3):201-6. PMID: 15750454.
      View in: PubMed
    410. Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet. 2005 Apr; 76(4):652-62. PMID: 15726498; PMCID: PMC1199302.
    411. Shen JJ, Kurotaki N, Patel A, Lupski JR, Brown CW. Low factor XII level in an individual with Sotos syndrome. Pediatr Blood Cancer. 2005 Feb; 44(2):187-9. PMID: 15390361.
      View in: PubMed
    412. Zhou T, Lee JW, Tatavarthi H, Lupski JR, Valerie K, Povirk LF. Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). Nucleic Acids Res. 2005; 33(1):289-97. PMID: 15647511; PMCID: PMC546157.
    413. Straussberg R, Basel-Vanagaite L, Kivity S, Dabby R, Cirak S, Nurnberg P, Voit T, Mahajnah M, Inbar D, Saifi GM, Lupski JR, Delague V, Megarbane A, Richter A, Leshinsky E, Berkovic SF. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. 2005 Jan 11; 64(1):142-4. PMID: 15642921.
      View in: PubMed
    414. Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Hum Mol Genet. 2005 Feb 15; 14(4):535-42. PMID: 15640245.
      View in: PubMed
    415. Healy M, Huong J, Bittner T, Lising M, Frye S, Raza S, Schrock R, Manry J, Renwick A, Nieto R, Woods C, Versalovic J, Lupski JR. Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol. 2005 Jan; 43(1):199-207. PMID: 15634972; PMCID: PMC540112.
    416. Yatsenko AN, Wiszniewski W, Zaremba CM, Jamrich M, Lupski JR. Evolution of ABCA4 proteins in vertebrates. J Mol Evol. 2005 Jan; 60(1):72-80. PMID: 15696369.
      View in: PubMed
    417. Szigeti K, Sule N, Adesina AM, Armstrong DL, Saifi GM, Bonilla E, Hirano M, Lupski JR. Increased blood-brain barrier permeability with thymidine phosphorylase deficiency. Ann Neurol. 2004 Dec; 56(6):881-6. PMID: 15562405.
      View in: PubMed
    418. Stankiewicz P, Shaw CJ, Withers M, Inoue K, Lupski JR. Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res. 2004 Nov; 14(11):2209-20. PMID: 15520286; PMCID: PMC525679.
    419. Shaw CJ, Lupski JR. Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet. 2005 Jan; 116(1-2):1-7. PMID: 15526218.
      View in: PubMed
    420. Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet. 2004 Nov; 115(6):515-24. PMID: 15565467.
      View in: PubMed
    421. Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet. 2004 Nov 1; 13(21):2613-24. PMID: 15459175.
      View in: PubMed
    422. Lupski JR. Hotspots of homologous recombination in the human genome: not all homologous sequences are equal. Genome Biol. 2004; 5(10):242. PMID: 15461806; PMCID: PMC545587.
    423. Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet. 2004 Sep; 36(9):994-8. PMID: 15322545.
      View in: PubMed
    424. Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology. 2004 Aug 10; 63(3):577-80. PMID: 15304601.
      View in: PubMed
    425. Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR. Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet. 2004 Aug; 66(2):128-36. PMID: 15253763.
      View in: PubMed
    426. Shaw CJ, Withers MA, Lupski JR. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. Am J Hum Genet. 2004 Jul; 75(1):75-81. PMID: 15148657; PMCID: PMC1182010.
    427. Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M, Perez Jurado L, Estivill X, Lupski JR. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum Genet. 2004 Jun; 115(1):1-7. PMID: 15098121.
      View in: PubMed
    428. Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet. 2004 Apr; 36(4):361-9. PMID: 15004559.
      View in: PubMed
    429. Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet. 2004 Apr 1; 13 Spec No 1:R57-64. PMID: 14764619.
      View in: PubMed
    430. Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet. 2004 Feb; 41(2):113-9. PMID: 14757858; PMCID: PMC1735660.
    431. Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet. 2004 Feb; 41(2):125-9. PMID: 14757860; PMCID: PMC1735672.
    432. Midro AT, Panasiuk B, Tümer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasów E, Famulski W, Zadrozna-To?wi?ska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A. 2004 Jan 15; 124A(2):179-91. PMID: 14699618.
      View in: PubMed
    433. Shaw CJ, Stankiewicz P, Christodoulou J, Smith E, Jones K, Lupski JR. A girl with duplication 17p10-p12 associated with a dicentric chromosome. Am J Med Genet A. 2004 Jan 15; 124A(2):173-8. PMID: 14699617.
      View in: PubMed
    434. Walz K, Spencer C, Kaasik K, Lee CC, Lupski JR, Paylor R. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). Hum Mol Genet. 2004 Feb 15; 13(4):367-78. PMID: 14709593.
      View in: PubMed
    435. Eichers ER, Lewis RA, Katsanis N, Lupski JR. Triallelic inheritance: a bridge between Mendelian and multifactorial traits. Ann Med. 2004; 36(4):262-72. PMID: 15224652.
      View in: PubMed
    436. Toki F, Suzuki N, Inoue K, Suzuki M, Hirakata K, Nagai K, Kuroiwa M, Lupski JR, Tsuchida Y. Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Pediatr Surg Int. 2003 Dec; 19(11):725-8. PMID: 14691634.
      View in: PubMed
    437. Barbouti A, Stankiewicz P, Nusbaum C, Cuomo C, Cook A, Höglund M, Johansson B, Hagemeijer A, Park SS, Mitelman F, Lupski JR, Fioretos T. The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet. 2004 Jan; 74(1):1-10. PMID: 14666446; PMCID: PMC1181896.
    438. Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet. 2003 Dec; 73(6):1302-15. PMID: 14639526; PMCID: PMC1180396.
    439. Shen JJ, Brown CA, Lupski JR, Potocki L. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet. 2003 Nov; 40(11):854-7. PMID: 14627682; PMCID: PMC1735303.
    440. Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FP, Allikmets R. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003 Nov; 22(5):395-403. PMID: 14517951.
      View in: PubMed
    441. Potocki L, Shaw CJ, Stankiewicz P, Lupski JR. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med. 2003 Nov-Dec; 5(6):430-4. PMID: 14614393.
      View in: PubMed
    442. Yan J, Walz K, Nakamura H, Carattini-Rivera S, Zhao Q, Vogel H, Wei N, Justice MJ, Bradley A, Lupski JR. COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast. Mol Cell Biol. 2003 Oct; 23(19):6798-808. PMID: 12972600; PMCID: PMC193933.
    443. Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR. Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003 Sep; 54(3):398-402. PMID: 12953275.
      View in: PubMed
    444. Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR. Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Investig Med. 2003 Sep; 51(5):261-83. PMID: 14577517.
      View in: PubMed
    445. Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Arch Dermatol. 2003 Jul; 139(7):916-20. PMID: 12873889.
      View in: PubMed
    446. Inoue K, Lupski JR. Genetics and genomics of behavioral and psychiatric disorders. Curr Opin Genet Dev. 2003 Jun; 13(3):303-9. PMID: 12787794.
      View in: PubMed
    447. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat. 2003 Jun; 21(6):636-44. PMID: 12754711.
      View in: PubMed
    448. Walz K, Caratini-Rivera S, Bi W, Fonseca P, Mansouri DL, Lynch J, Vogel H, Noebels JL, Bradley A, Lupski JR. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol. 2003 May; 23(10):3646-55. PMID: 12724422; PMCID: PMC154242.
    449. Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet. 2003 May; 72(5):1187-99. PMID: 12677556; PMCID: PMC1180271.
    450. Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet. 2003 May; 72(5):1101-16. PMID: 12649807; PMCID: PMC1180264.
    451. Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR. CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol. 2003 Mar; 53(3):400-5. PMID: 12601710.
      View in: PubMed
    452. Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain. 2003 Mar; 126(Pt 3):590-7. PMID: 12566280.
      View in: PubMed
    453. Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003 Mar; 72(3):650-8. PMID: 12567324; PMCID: PMC1180240.
    454. Lupski JR. 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. Am J Hum Genet. 2003 Feb; 72(2):246-52. PMID: 12596790; PMCID: PMC379220.
    455. Stankiewicz P, Inoue K, Bi W, Walz K, Park SS, Kurotaki N, Shaw CJ, Fonseca P, Yan J, Lee JA, Khajavi M, Lupski JR. Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits. Cold Spring Harb Symp Quant Biol. 2003; 68:445-54. PMID: 15338647.
      View in: PubMed
    456. Stankiewicz P, Cheung SW, Shaw CJ, Saleki R, Szigeti K, Lupski JR. The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3. Cytogenet Genome Res. 2003; 101(2):118-23. PMID: 14610351.
      View in: PubMed
    457. Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP. Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol. 2002 Dec; 52(6):836-42. PMID: 12447940.
      View in: PubMed
    458. Schlesinger AE, Potocki L, Poznanski AK, Lupski JR. The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis. Pediatr Radiol. 2003 Mar; 33(3):173-6. PMID: 12612815.
      View in: PubMed
    459. Katsanis N, Worley KC, Gonzalez G, Ansley SJ, Lupski JR. A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes. Proc Natl Acad Sci U S A. 2002 Oct 29; 99(22):14326-31. PMID: 12391299; PMCID: PMC137883.
    460. Shaw CJ, Bi W, Lupski JR. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet. 2002 Nov; 71(5):1072-81. PMID: 12375235; PMCID: PMC420000.
    461. Shlush LI, Behar DM, Zelazny A, Keller N, Lupski JR, Beaudet AL, Bercovich D. Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign. J Clin Microbiol. 2002 Oct; 40(10):3565-71. PMID: 12354847; PMCID: PMC130885.
    462. Inoue K, Osaka H, Thurston VC, Clarke JT, Yoneyama A, Rosenbarker L, Bird TD, Hodes ME, Shaffer LG, Lupski JR. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet. 2002 Oct; 71(4):838-53. PMID: 12297985; PMCID: PMC378540.
    463. Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet. 2002 Oct; 32(2):267-72. PMID: 12244316.
      View in: PubMed
    464. Lupski JR. Introduction of Arthur L. Beaudet, Harland Sanders Award recipient. Genet Med. 2002 Sep-Oct; 4(5):396-8. PMID: 12394354.
      View in: PubMed
    465. Bejjani BA, Xu L, Armstrong D, Lupski JR, Reneker LW. Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes. Exp Eye Res. 2002 Sep; 75(3):249-57. PMID: 12384088.
      View in: PubMed
    466. Stankiewicz P, Lupski JR. Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev. 2002 Jun; 12(3):312-9. PMID: 12076675.
      View in: PubMed
    467. Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR. Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol. 2002 Jun; 51(6):709-15. PMID: 12112076.
      View in: PubMed
    468. Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet. 2002 Jul; 71(1):22-9. PMID: 12016587; PMCID: PMC384990.
    469. Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res. 2002 May; 12(5):713-28. PMID: 11997338; PMCID: PMC186594.
    470. Campbell HD, Fountain S, McLennan IS, Berven LA, Crouch MF, Davy DA, Hooper JA, Waterford K, Chen KS, Lupski JR, Ledermann B, Young IG, Matthaei KI. Fliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic development. Mol Cell Biol. 2002 May; 22(10):3518-26. PMID: 11971982; PMCID: PMC133791.
    471. Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L. Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med. 2002 May-Jun; 4(3):118-25. PMID: 12180145.
      View in: PubMed
    472. Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B, Lupski JR. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res. 2002 May; 12(5):729-38. PMID: 11997339; PMCID: PMC186597.
    473. Inoue K, Lupski JR. Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet. 2002; 3:199-242. PMID: 12142364.
      View in: PubMed
    474. Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet. 2002 Apr; 70(4):955-64. PMID: 11868161; PMCID: PMC379124.
    475. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol. 2002 Feb; 51(2):190-201. PMID: 11835375.
      View in: PubMed
    476. Bernstein PS, Leppert M, Singh N, Dean M, Lewis RA, Lupski JR, Allikmets R, Seddon JM. Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. Invest Ophthalmol Vis Sci. 2002 Feb; 43(2):466-73. PMID: 11818392.
      View in: PubMed
    477. Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002 Feb; 18(2):74-82. PMID: 11818139.
      View in: PubMed
    478. Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet. 2002 Feb; 30(2):215-20. PMID: 11799392.
      View in: PubMed
    479. Friedman TB, Hinnant JT, Ghosh M, Boger ET, Riazuddin S, Lupski JR, Potocki L, Wilcox ER. DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Adv Otorhinolaryngol. 2002; 61:124-30. PMID: 12408074.
      View in: PubMed
    480. Boerkoel CF, Takashima H, Lupski JR. The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy. Curr Neurol Neurosci Rep. 2002 Jan; 2(1):70-7. PMID: 11898586.
      View in: PubMed
    481. Versalovic J, Lupski JR. Molecular detection and genotyping of pathogens: more accurate and rapid answers. Trends Microbiol. 2002; 10(10 Suppl):S15-21. PMID: 12377563.
      View in: PubMed
    482. Inoue K, Tanaka H, Scaglia F, Araki A, Shaffer LG, Lupski JR. Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Ann Neurol. 2001 Dec; 50(6):747-54. PMID: 11761472.
      View in: PubMed
    483. Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork CD, Wakui K, Fukushima Y, Lupski JR, Shaffer LG. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenat Diagn. 2001 Dec; 21(13):1133-6. PMID: 11787038.
      View in: PubMed
    484. Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR. Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum Mol Genet. 2001 Nov 1; 10(23):2671-8. PMID: 11726554.
      View in: PubMed
    485. Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR. Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2001 Nov; 42(12):2757-61. PMID: 11687513.
      View in: PubMed
    486. Stankiewicz P, Parka SS, Holder SE, Waters CS, Palmer RW, Berend SA, Shaffer LG, Potocki L, Lupski JR. Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype. Clin Genet. 2001 Nov; 60(5):336-44. PMID: 11903333.
      View in: PubMed
    487. Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet. 2001 Nov; 109(5):535-41. PMID: 11735029.
      View in: PubMed
    488. Katsanis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. Hum Mol Genet. 2001 Oct 1; 10(20):2293-9. PMID: 11673413.
      View in: PubMed
    489. Stockton DW, Meade RA, Netscher DT, Epstein MJ, Shenaq SM, Shaffer LG, Lupski JR. Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome. Arch Neurol. 2001 Oct; 58(10):1635-7. PMID: 11594922.
      View in: PubMed
    490. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science. 2001 Sep 21; 293(5538):2256-9. PMID: 11567139.
      View in: PubMed
    491. Takashima H, Boerkoel CF, Lupski JR. Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genet Med. 2001 Sep-Oct; 3(5):335-42. PMID: 11545686.
      View in: PubMed
    492. Katsanis N, Worley KC, Lupski JR. An evaluation of the draft human genome sequence. Nat Genet. 2001 Sep; 29(1):88-91. PMID: 11528399.
      View in: PubMed
    493. Kamnasaran D, O'Brien PC, Schuffenhauer S, Quarrell O, Lupski JR, Grammatico P, Ferguson-Smith MA, Cox DW. Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. Am J Med Genet. 2001 Aug 1; 102(2):173-82. PMID: 11477612.
      View in: PubMed
    494. Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR. EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics. 2001 Jul; 3(3):153-7. PMID: 11523566.
      View in: PubMed
    495. Stankiewicz P, Park SS, Inoue K, Lupski JR. The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res. 2001 Jul; 11(7):1205-10. PMID: 11435402; PMCID: PMC311135.
    496. Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 2001 Jun; 59(6):424-9. PMID: 11453974.
      View in: PubMed
    497. Shroyer NF, Lewis RA, Lupski JR. Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? Am J Ophthalmol. 2001 Jun; 131(6):761-6. PMID: 11384574.
      View in: PubMed
    498. Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res. 2001 Jun; 11(6):1018-33. PMID: 11381029; PMCID: PMC311111.
    499. Badano JL, Inoue K, Katsanis N, Lupski JR. New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis. Clin Chem. 2001 May; 47(5):838-43. PMID: 11325886.
      View in: PubMed
    500. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet. 2001 Apr; 108(4):346-55. PMID: 11379881.
      View in: PubMed
    501. Liehr T, Reiter LT, Lupski JR, Murakami T, Claussen U, Rautenstrauss B. Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites. Mamm Genome. 2001 Apr; 12(4):326-8. PMID: 11309667.
      View in: PubMed
    502. Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics. 2001 Mar; 3(2):107-9. PMID: 11354824.
      View in: PubMed
    503. Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet. 2001 Mar; 68(3):606-16. PMID: 11179009; PMCID: PMC1274474.
    504. Edelmann L, Stankiewicz P, Spiteri E, Pandita RK, Shaffer L, Lupski JR, Morrow BE, Lupski J. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Genome Res. 2001 Feb; 11(2):208-17. PMID: 11157784; PMCID: PMC311013.
    505. Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb; 68(2):325-33. PMID: 11133365; PMCID: PMC1235266.
    506. Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000 Sep; 26(1):67-70. PMID: 10973251.
      View in: PubMed
    507. Britton RA, Chen SM, Wallis D, Koeuth T, Powell BS, Shaffer LG, Largaespada D, Jenkins NA, Copeland NG, Court DL, Lupski JR. Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era. Genomics. 2000 Jul 1; 67(1):78-82. PMID: 10945472.
      View in: PubMed
    508. Lewis RA, Lupski JR. Macular degeneration: the emerging genetics. Hosp Pract (1995). 2000 Jun 15; 35(6):41-50, 56-8. PMID: 10884818.
      View in: PubMed
    509. Lupski JR. Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L) Am J Hum Genet. 2000 Jul; 67(1):8-10. PMID: 10848490; PMCID: PMC1287104.
    510. Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet. 2000 Jun; 37(6):428-33. PMID: 10851253; PMCID: PMC1734604.
    511. Abidari JM, Gonzales ET, Inoue K, Lupski JR, Karsenty G, Katsanis N. Identification of novel genes expressed during metanephric induction through single-cell library screening. Kidney Int. 2000 Jun; 57(6):2221-8. PMID: 10844592.
      View in: PubMed
    512. Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet. 2000 Feb 12; 9(3):367-74. PMID: 10655546.
      View in: PubMed
    513. Shroyer NF, Lewis RA, Lupski JR. Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. Hum Genet. 2000 Feb; 106(2):244-8. PMID: 10746567.
      View in: PubMed
    514. Gutierrez A, England JD, Sumner AJ, Ferer S, Warner LE, Lupski JR, Garcia CA. Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve. 2000 Feb; 23(2):182-8. PMID: 10639608.
      View in: PubMed
    515. Shaffer LG, Lupski JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet. 2000; 34:297-329. PMID: 11092830.
      View in: PubMed
    516. Katsanis N, Venable S, Smith JR, Lupski JR. Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. Hum Genet. 2000 Jan; 106(1):66-72. PMID: 10982184.
      View in: PubMed
    517. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet. 2000 Jan; 24(1):84-7. PMID: 10615134.
      View in: PubMed
    518. Lupski JR. Recessive Charcot-Marie-tooth disease. Ann Neurol. 2000 Jan; 47(1):6-8. PMID: 10632095.
      View in: PubMed
    519. Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. Am J Hum Genet. 1999 Dec; 65(6):1672-9. PMID: 10577921; PMCID: PMC1288378.
    520. Kashork CD, Chen KS, Lupski JR, Shaffer LG. Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A. Ann N Y Acad Sci. 1999 Oct; 883(1):457-459. PMID: 29086957.
      View in: PubMed
    521. Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR. Molecular Mechanisms for CMT1A Duplication and HNPP Deletion. Ann N Y Acad Sci. 1999 Oct; 883(1):22-35. PMID: 29086952.
      View in: PubMed
    522. Kashork CD, Chen KS, Lupski JR, Shaffer LG. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci. 1999 Sep 14; 883:457-9. PMID: 10586272.
      View in: PubMed
    523. Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR. Molecular mechanisms for CMT1A duplication and HNPP deletion. Ann N Y Acad Sci. 1999 Sep 14; 883:22-35. PMID: 10586226.
      View in: PubMed
    524. Inoue K, Tanabe Y, Lupski JR. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol. 1999 Sep; 46(3):313-8. PMID: 10482261.
      View in: PubMed
    525. Reiter LT, Liehr T, Rautenstrauss B, Robertson HM, Lupski JR. Localization of mariner DNA transposons in the human genome by PRINS. Genome Res. 1999 Sep; 9(9):839-43. PMID: 10508842; PMCID: PMC310809.
    526. Nagaya T, Chen KS, Fujieda M, Ohmori S, Richer JK, Horwitz KB, Lupski JR, Seo H. Localization of the human nuclear receptor corepressor (hN-CoR) gene between the CMT1A and the SMS critical regions of chromosome 17p11.2. Genomics. 1999 Aug 1; 59(3):339-41. PMID: 10444336.
      View in: PubMed
    527. Shroyer NF, Lewis RA, Allikmets R, Singh N, Dean M, Leppert M, Lupski JR. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res. 1999 Jul; 39(15):2537-44. PMID: 10396622.
      View in: PubMed
    528. Warner LE, Svaren J, Milbrandt J, Lupski JR. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet. 1999 Jul; 8(7):1245-51. PMID: 10369870.
      View in: PubMed
    529. Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology. 1999 Jun 10; 52(9):1827-32. PMID: 10371530.
      View in: PubMed
    530. Liehr T, Kuhlenbäumer G, Wulf P, Taylor V, Suter U, Van Broeckhoven C, Lupski JR, Claussen U, Rautenstrauss B. Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3. Genomics. 1999 May 15; 58(1):106-8. PMID: 10331954.
      View in: PubMed
    531. Kashork CD, Lupski JR, Shaffer LG. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization. Prenat Diagn. 1999 May; 19(5):446-9. PMID: 10360513.
      View in: PubMed
    532. Inoue K, Osaka H, Imaizumi K, Nezu A, Takanashi J, Arii J, Murayama K, Ono J, Kikawa Y, Mito T, Shaffer LG, Lupski JR. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol. 1999 May; 45(5):624-32. PMID: 10319885.
      View in: PubMed
    533. Potocki L, Chen KS, Lupski JR. Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2. Genomics. 1999 Apr 1; 57(1):180-2. PMID: 10191102.
      View in: PubMed
    534. Phillips JP, Warner LE, Lupski JR, Garg BP. Congenital hypomyelinating neuropathy: two patients with long-term follow-up. Pediatr Neurol. 1999 Mar; 20(3):226-32. PMID: 10207934.
      View in: PubMed
    535. Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR. DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. Am J Hum Genet. 1999 Feb; 64(2):471-8. PMID: 9973284; PMCID: PMC1377756.
    536. Probst FJ, Chen KS, Zhao Q, Wang A, Friedman TB, Lupski JR, Camper SA. A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). Genomics. 1999 Feb 1; 55(3):348-52. PMID: 10049592.
      View in: PubMed
    537. Lupski JR. Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity. Pediatr Res. 1999 Feb; 45(2):159-65. PMID: 10022584.
      View in: PubMed
    538. Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M. Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet. 1999 Feb; 64(2):422-34. PMID: 9973280; PMCID: PMC1377752.
    539. Warner LE, Garcia CA, Lupski JR. Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms. Annu Rev Med. 1999; 50:263-75. PMID: 10073277.
      View in: PubMed
    540. King PH, Waldrop R, Lupski JR, Shaffer LG. Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. Clin Genet. 1998 Nov; 54(5):413-6. PMID: 9842994.
      View in: PubMed
    541. Bejjani BA, Oberg KC, Wilkins I, Moise A, Langston C, Superti-Furga A, Lupski JR. Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. Am J Med Genet. 1998 Oct 12; 79(5):392-5. PMID: 9779808.
      View in: PubMed
    542. Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998 Oct; 14(10):417-22. PMID: 9820031.
      View in: PubMed
    543. Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR. A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet. 1998 Sep; 103(3):328-33. PMID: 9799089.
      View in: PubMed
    544. Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet. 1998 Jun 16; 78(1):82-9. PMID: 9637430.
      View in: PubMed
    545. Rajashekara G, Koeuth T, Nevile S, Back A, Nagaraja KV, Lupski JR, Kapur V. SERE, a widely dispersed bacterial repetitive DNA element. J Med Microbiol. 1998 Jun; 47(6):489-97. PMID: 9879967.
      View in: PubMed
    546. Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet. 1998 May; 62(5):1023-33. PMID: 9545397; PMCID: PMC1377084.
    547. Zhao Q, Chen KS, Bejjani BA, Lupski JR. Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179. Genomics. 1998 May 1; 49(3):394-400. PMID: 9615224.
      View in: PubMed
    548. Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr; 18(4):382-4. PMID: 9537424.
      View in: PubMed
    549. Liang Y, Wang A, Probst FJ, Arhya IN, Barber TD, Chen KS, Deshmukh D, Dolan DF, Hinnant JT, Carter LE, Jain PK, Lalwani AK, Li XC, Lupski JR, Moeljopawiro S, Morell R, Negrini C, Wilcox ER, Winata S, Camper SA, Friedman TB. Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. Am J Hum Genet. 1998 Apr; 62(4):904-15. PMID: 9529344; PMCID: PMC1377026.
    550. Britton RA, Powell BS, Dasgupta S, Sun Q, Margolin W, Lupski JR, Court DL. Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli. Mol Microbiol. 1998 Feb; 27(4):739-50. PMID: 9515700.
      View in: PubMed
    551. Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet. 1998 Feb; 62(2):325-33. PMID: 9463332; PMCID: PMC1376900.
    552. Lupski JR. Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol Med. 1998 Jan; 4(1):3-11. PMID: 9513184; PMCID: PMC2230264.
    553. Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet. 1997 Oct; 17(2):154-63. PMID: 9326934.
      View in: PubMed
    554. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997 Sep 19; 277(5333):1805-7. PMID: 9295268.
      View in: PubMed
    555. Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet. 1997 Sep; 6(9):1595-603. PMID: 9285799.
      View in: PubMed
    556. Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR. Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review. Am J Med Genet. 1997 Aug 8; 71(2):189-93. PMID: 9217220.
      View in: PubMed
    557. Britton RA, Powell BS, Court DL, Lupski JR. Characterization of mutations affecting the Escherichia coli essential GTPase era that suppress two temperature-sensitive dnaG alleles. J Bacteriol. 1997 Jul; 179(14):4575-82. PMID: 9226268; PMCID: PMC179294.
    558. Campbell HD, Fountain S, Young IG, Claudianos C, Hoheisel JD, Chen KS, Lupski JR. Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. Genomics. 1997 May 15; 42(1):46-54. PMID: 9177775.
      View in: PubMed
    559. Murakami T, Reiter LT, Lupski JR. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics. 1997 May 15; 42(1):161-4. PMID: 9177788.
      View in: PubMed
    560. Lupski JR. Charcot-Marie-Tooth disease: a gene-dosage effect. Hosp Pract (1995). 1997 May 15; 32(5):83-4, 89-91, 94-5 passim. PMID: 9153141.
      View in: PubMed
    561. Britton RA, Lupski JR. Isolation and characterization of suppressors of two Escherichia coli dnaG mutations, dnaG2903 and parB. Genetics. 1997 Apr; 145(4):867-75. PMID: 9093842; PMCID: PMC1207892.
    562. Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet. 1997 Mar 31; 69(3):325-31. PMID: 9096765.
      View in: PubMed
    563. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997 Mar; 15(3):236-46. PMID: 9054934.
      View in: PubMed
    564. Versalovic J, Lupski JR. Missense mutations in the 3' end of the Escherichia coli dnaG gene do not abolish primase activity but do confer the chromosome-segregation-defective (par) phenotype. Microbiology. 1997 Feb; 143 ( Pt 2):585-94. PMID: 9043135.
      View in: PubMed
    565. Warner LE, Shohat M, Shorer Z, Lupski JR. Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case. Hum Mutat. 1997; 10(1):21-4. PMID: 9222756.
      View in: PubMed
    566. Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Löfgren A, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet. 1997 Jan; 34(1):43-9. PMID: 9032649; PMCID: PMC1050846.
    567. Rautenstrauss B, Fuchs C, Liehr T, Grehl H, Murakami T, Lupski JR. Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers. J Peripher Nerv Syst. 1997; 2(4):319-22. PMID: 10975740.
      View in: PubMed
    568. Murakami T, Sun ZS, Lee CC, Lupski JR. Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics. 1997 Jan 1; 39(1):99-103. PMID: 9027492.
      View in: PubMed
    569. Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski JR, Patel PI. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet. 1996 Dec; 98(6):710-8. PMID: 8931707.
      View in: PubMed
    570. Anderson KL, Lewis RA, Bejjani BA, Baird L, Otterud B, Tomey KF, Astle WF, Dueker DK, Leppert M, Lupski JR. A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma. J Glaucoma. 1996 Dec; 5(6):416-21. PMID: 8946299.
      View in: PubMed
    571. Woods CR, Koeuth T, Estabrook MM, Lupski JR. Rapid determination of outbreak-related strains of Neisseria meningitidis by repetitive element-based polymerase chain reaction genotyping. J Infect Dis. 1996 Oct; 174(4):760-7. PMID: 8843214.
      View in: PubMed
    572. Murakami T, Garcia CA, Reiter LT, Lupski JR. Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine (Baltimore). 1996 Sep; 75(5):233-50. PMID: 8862346.
      View in: PubMed
    573. Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 1996 Sep; 17(3):451-60. PMID: 8816708.
      View in: PubMed
    574. Chen RM, Lupski JR, Greenberg F, Lewis RA. Ophthalmic manifestations of Smith-Magenis syndrome. Ophthalmology. 1996 Jul; 103(7):1084-91. PMID: 8684798.
      View in: PubMed
    575. Lupski JR. DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin Chem. 1996 Jul; 42(7):995-8. PMID: 8674212.
      View in: PubMed
    576. Allerberger F, Koeuth T, Lass-FLörl C, Dierich MP, Putensen C, Scmutzhard E, Mohsenipour I, Grundmann H, Hartung D, Bauernfeind A, Eberlein E, Lupski JR. Epidemiology of infections due to multiresistant Enterobacter aerogenes in a university hospital. Eur J Clin Microbiol Infect Dis. 1996 Jun; 15(6):517-21. PMID: 8839650.
      View in: PubMed
    577. Murakami T, Lupski JR. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics. 1996 May 15; 34(1):128-33. PMID: 8661034.
      View in: PubMed
    578. Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy. Hum Genet. 1996 May; 97(5):642-9. PMID: 8655146.
      View in: PubMed
    579. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996 May; 58(5):998-1007. PMID: 8651284; PMCID: PMC1914618.
    580. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) Am J Med Genet. 1996 Mar 29; 62(3):247-54. PMID: 8882782.
      View in: PubMed
    581. Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet. 1996 Mar; 12(3):288-97. PMID: 8589720.
      View in: PubMed
    582. Lupski JR, Roth JR, Weinstock GM. Chromosomal duplications in bacteria, fruit flies, and humans. Am J Hum Genet. 1996 Jan; 58(1):21-7. PMID: 8554058; PMCID: PMC1914933.
    583. Shaffer LG, McCaskill C, Hersh JH, Greenberg F, Lupski JR. A clinical and molecular study of mosaicism for trisomy 17. Hum Genet. 1996 Jan; 97(1):69-72. PMID: 8557263.
      View in: PubMed
    584. Killian JM, Tiwari PS, Jacobson S, Jackson RD, Lupski JR. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve. 1996 Jan; 19(1):74-8. PMID: 8538673.
      View in: PubMed
    585. Warner LE, Reiter LT, Murakami T, Lupski JR. Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies. Cold Spring Harb Symp Quant Biol. 1996; 61:659-71. PMID: 9246492.
      View in: PubMed
    586. Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat. 1996; 7(1):36-45. PMID: 8664899.
      View in: PubMed
    587. Warner LE, Roa BB, Lupski JR. Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A. Hum Mutat. 1996; 8(4):362-5. PMID: 8956042.
      View in: PubMed
    588. Nelis E, Warner LE, Vriendt ED, Chance PF, Lupski JR, Van Broeckhoven C. Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet. 1996; 4(6):329-33. PMID: 9043865.
      View in: PubMed
    589. Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR. A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am J Hum Genet. 1995 Dec; 57(6):1351-63. PMID: 8533764; PMCID: PMC1801408.
    590. Juyal RC, Finucane B, Shaffer LG, Lupski JR, Greenberg F, Scott CI, Baldini A, Patel PI. Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. Am J Med Genet. 1995 Nov 20; 59(3):406-7. PMID: 8599375.
      View in: PubMed
    591. Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR. Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. Neurology. 1995 Nov; 45(11):2090-3. PMID: 7501164.
      View in: PubMed
    592. Koeuth T, Versalovic J, Lupski JR. Differential subsequence conservation of interspersed repetitive Streptococcus pneumoniae BOX elements in diverse bacteria. Genome Res. 1995 Nov; 5(4):408-18. PMID: 8750201.
      View in: PubMed
    593. Harvey BS, Koeuth T, Versalovic J, Woods CR, Lupski JR. Vertical transmission of Citrobacter diversus documented by DNA fingerprinting. Infect Control Hosp Epidemiol. 1995 Oct; 16(10):564-9. PMID: 8568200.
      View in: PubMed
    594. Warner LE, Roa BB, Lupski JR. Settling the myelin protein zero question in CMT1B. Nat Genet. 1995 Oct; 11(2):119-20. PMID: 7550336.
      View in: PubMed
    595. Juyal RC, Greenberg F, Mengden GA, Lupski JR, Trask BJ, van den Engh G, Lindsay EA, Christy H, Chen KS, Baldini A, et al. Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. Am J Med Genet. 1995 Sep 11; 58(3):286-91. PMID: 8533833.
      View in: PubMed
    596. Del Vecchio VG, Petroziello JM, Gress MJ, McCleskey FK, Melcher GP, Crouch HK, Lupski JR. Molecular genotyping of methicillin-resistant Staphylococcus aureus via fluorophore-enhanced repetitive-sequence PCR. J Clin Microbiol. 1995 Aug; 33(8):2141-4. PMID: 7559964; PMCID: PMC228351.
    597. Go MF, Chan KY, Versalovic J, Koeuth T, Graham DY, Lupski JR. Cluster analysis of Helicobacter pylori genomic DNA fingerprints suggests gastroduodenal disease-specific associations. Scand J Gastroenterol. 1995 Jul; 30(7):640-6. PMID: 7481525.
      View in: PubMed
    598. Britton RA, Lupski JR. Functional analysis of mutations in the transcription terminator T1 that suppress two dnaG alleles in Escherichia coli. Mol Gen Genet. 1995 Mar 20; 246(6):729-33. PMID: 7898441.
      View in: PubMed
    599. Levin ML, Shaffer LG. Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies. Am J Med Genet. 1995 Jan 2; 55(1):30-2. PMID: 7702093.
      View in: PubMed
    600. Versalovic J, Kapur V, Koeuth T, Mazurek GH, Whittam TS, Musser JM, Lupski JR. DNA fingerprinting of pathogenic bacteria by fluorophore-enhanced repetitive sequence-based polymerase chain reaction. Arch Pathol Lab Med. 1995 Jan; 119(1):23-9. PMID: 7802548.
      View in: PubMed
    601. Georghiou PR, Hamill RJ, Wright CE, Versalovic J, Koeuth T, Watson DA, Lupski JR. Molecular epidemiology of infections due to Enterobacter aerogenes: identification of hospital outbreak-associated strains by molecular techniques. Clin Infect Dis. 1995 Jan; 20(1):84-94. PMID: 7727676.
      View in: PubMed
    602. Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet. 1995 Jan; 56(1):91-8. PMID: 7825607; PMCID: PMC1801301.
    603. Chen KS, Gunaratne PH, Hoheisel JD, Young IG, Miklos GL, Greenberg F, Shaffer LG, Campbell HD, Lupski JR. The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am J Hum Genet. 1995 Jan; 56(1):175-82. PMID: 7825574; PMCID: PMC1801336.
    604. Metzger R, Brown DP, Grealish P, Staver MJ, Versalovic J, Lupski JR, Katz L. Characterization of the macromolecular synthesis (MMS) operon from Listeria monocytogenes. Gene. 1994 Dec 30; 151(1-2):161-6. PMID: 7828867.
      View in: PubMed
    605. Georghiou PR, Doggett AM, Kielhofner MA, Stout JE, Watson DA, Lupski JR, Hamill RJ. Molecular fingerprinting of Legionella species by repetitive element PCR. J Clin Microbiol. 1994 Dec; 32(12):2989-94. PMID: 7883887; PMCID: PMC264212.
    606. Suter U, Snipes GJ, Schoener-Scott R, Welcher AA, Pareek S, Lupski JR, Murphy RA, Shooter EM, Patel PI. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem. 1994 Oct 14; 269(41):25795-808. PMID: 7929285.
      View in: PubMed
    607. Chance PF, Lupski JR. Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. Baillieres Clin Neurol. 1994 Aug; 3(2):373-85. PMID: 7952853.
      View in: PubMed
    608. Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG. De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet. 1994 Aug 1; 52(1):44-50. PMID: 7977460.
      View in: PubMed
    609. Matise TC, Chakravarti A, Patel PI, Lupski JR, Nelis E, Timmerman V, Van Broeckhoven C, Weeks DE. Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet. 1994 Jun; 54(6):1110-21. PMID: 8198134; PMCID: PMC1918201.
    610. Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat Genet. 1994 May; 7(1):108-12. PMID: 8075632.
      View in: PubMed
    611. Patel PI, Lupski JR. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 1994 Apr; 10(4):128-33. PMID: 7518101.
      View in: PubMed
    612. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet. 1994 Feb; 3(2):223-8. PMID: 8004087.
      View in: PubMed
    613. Roa BB, Lupski JR. Molecular genetics of Charcot-Marie-Tooth neuropathy. Adv Hum Genet. 1994; 22:117-52. PMID: 7762451.
      View in: PubMed
    614. Versalovic J, Lupski JR. The Haemophilus influenzae dnaG sequence and conserved bacterial primase motifs. Gene. 1993 Dec 22; 136(1-2):281-6. PMID: 8294018.
      View in: PubMed
    615. Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology. 1993 Dec; 43(12):2664-7. PMID: 8255473.
      View in: PubMed
    616. Lupski JR, Chance PF, Garcia CA. Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. JAMA. 1993 Nov 17; 270(19):2326-30. PMID: 8230595.
      View in: PubMed
    617. Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov; 5(3):269-73. PMID: 8275092.
      View in: PubMed
    618. Versalovic J, Woods CR, Georghiou PR, Hamill RJ, Lupski JR. DNA-based identification and epidemiologic typing of bacterial pathogens. Arch Pathol Lab Med. 1993 Nov; 117(11):1088-98. PMID: 8239928.
      View in: PubMed
    619. Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1993 Oct; 5(2):189-94. PMID: 8252046.
      View in: PubMed
    620. Levin ML, Lupski JR, Carpenter RJ, Gerson LP, Greenberg F. An additional case of pachygyria, joint contractures and facial abnormalities. Clin Dysmorphol. 1993 Oct; 2(4):365-8. PMID: 8305968.
      View in: PubMed
    621. Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet. 1993 Oct; 53(4):853-63. PMID: 8105684; PMCID: PMC1682385.
    622. Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet. 1993 Sep 15; 47(4):504-11. PMID: 8256814.
      View in: PubMed
    623. Lupski JR. Molecular epidemiology and its clinical application. JAMA. 1993 Sep 15; 270(11):1363-4. PMID: 8360972.
      View in: PubMed
    624. Roa BB, Lupski JR. Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition. Am J Med Sci. 1993 Sep; 306(3):177-84. PMID: 8128981.
      View in: PubMed
    625. Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology. 1993 Sep; 43(9):1806-8. PMID: 8414036.
      View in: PubMed
    626. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 1993 Jul 8; 329(2):96-101. PMID: 8510709.
      View in: PubMed
    627. Woods CR, Versalovic J, Koeuth T, Lupski JR. Whole-cell repetitive element sequence-based polymerase chain reaction allows rapid assessment of clonal relationships of bacterial isolates. J Clin Microbiol. 1993 Jul; 31(7):1927-31. PMID: 8349778; PMCID: PMC265663.
    628. Versalovic J, Kapur V, Mason EO, Shah U, Koeuth T, Lupski JR, Musser JM. Penicillin-resistant Streptococcus pneumoniae strains recovered in Houston: identification and molecular characterization of multiple clones. J Infect Dis. 1993 Apr; 167(4):850-6. PMID: 8450250.
      View in: PubMed
    629. Versalovic J, Koeuth T, Britton R, Geszvain K, Lupski JR. Conservation and evolution of the rpsU-dnaG-rpoD macromolecular synthesis operon in bacteria. Mol Microbiol. 1993 Apr; 8(2):343-55. PMID: 8316085.
      View in: PubMed
    630. Roa BB, Garcia CA, Wise CA, Anderson K, Greenberg F, Patel PI, Lupski JR. Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Prog Clin Biol Res. 1993; 384:187-205. PMID: 8115402.
      View in: PubMed
    631. Lupski JR, Pentao L, Williams LL, Patel PI. Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. Am J Med Genet. 1993 Jan 1; 45(1):92-6. PMID: 8418668.
      View in: PubMed
    632. Lupski JR. An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Clin Res. 1992 Dec; 40(4):645-52. PMID: 1486731.
      View in: PubMed
    633. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet. 1992 Dec; 2(4):292-300. PMID: 1303282.
      View in: PubMed
    634. Woods CR, Versalovic J, Koeuth T, Lupski JR. Analysis of relationships among isolates of Citrobacter diversus by using DNA fingerprints generated by repetitive sequence-based primers in the polymerase chain reaction. J Clin Microbiol. 1992 Nov; 30(11):2921-9. PMID: 1452663; PMCID: PMC270553.
    635. Lupski JR, Garcia CA. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathol. 1992 Oct; 2(4):337-49. PMID: 1341967.
      View in: PubMed
    636. Lupski JR, Weinstock GM. Short, interspersed repetitive DNA sequences in prokaryotic genomes. J Bacteriol. 1992 Jul; 174(14):4525-9. PMID: 1624445; PMCID: PMC206247.
    637. Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI. Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics. 1992 Jul; 13(3):551-9. PMID: 1639385.
      View in: PubMed
    638. Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun; 1(3):159-65. PMID: 1303228.
      View in: PubMed
    639. Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Apr; 1(1):29-33. PMID: 1301995.
      View in: PubMed
    640. Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet. 1992 Apr; 50(4):690-9. PMID: 1347967; PMCID: PMC1682625.
    641. Subramanian PS, Versalovic J, McCabe ER, Lupski JR. Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR. PCR Methods Appl. 1992 Feb; 1(3):187-92. PMID: 1335324.
      View in: PubMed
    642. Versalovic J, Koeuth T, Lupski JR. Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes. Nucleic Acids Res. 1991 Dec 25; 19(24):6823-31. PMID: 1762913; PMCID: PMC329316.
    643. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991 Dec; 49(6):1207-18. PMID: 1746552; PMCID: PMC1686451.
    644. Hoffman EP, Garcia CA, Chamberlain JS, Angelini C, Lupski JR, Fenwick R. Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Ann Neurol. 1991 Oct; 30(4):605-10. PMID: 1789686.
      View in: PubMed
    645. Versalovic J, Koeuth T, McCabe ER, Lupski JR. Use of the polymerase chain reaction for physical mapping of Escherichia coli genes. J Bacteriol. 1991 Sep; 173(17):5253-5. PMID: 1832149; PMCID: PMC208231.
    646. Lupski JR, Garcia CA, Zoghbi HY, Hoffman EP, Fenwick RG. Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet. 1991 Sep 1; 40(3):354-64. PMID: 1683155.
      View in: PubMed
    647. Lupski JR, Langston C, Friedman R, Ledbetter DH, Greenberg F. Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2). Am J Med Genet. 1991 Aug 1; 40(2):196-8. PMID: 1897574.
      View in: PubMed
    648. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26; 66(2):219-32. PMID: 1677316.
      View in: PubMed
    649. Franco B, Lai LW, Patterson D, Ledbetter DH, Trask BJ, van den Engh G, Iannaccone S, Frances S, Patel PI, Lupski JR. Molecular characterization of a patient with del(1)(q23-q25). Hum Genet. 1991 Jul; 87(3):269-77. PMID: 1677922.
      View in: PubMed
    650. Grompe M, Versalovic J, Koeuth T, Lupski JR. Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning. J Bacteriol. 1991 Feb; 173(3):1268-78. PMID: 1991720; PMCID: PMC207251.
    651. Guzzetta V, Montes de Oca-Luna R, Lupski JR, Patel PI. Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction. Genomics. 1991 Jan; 9(1):31-6. PMID: 2004767.
      View in: PubMed
    652. Roa BB, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. Int J Neurol. 1991-1992; 25-26:97-107. PMID: 11980069.
      View in: PubMed
    653. Franco B, Rincon-Limas D, Nakamura Y, Patel PI, Lupski JR. Two MspI RFLPs at the D17S258 locus. Nucleic Acids Res. 1990 Dec 11; 18(23):7196. PMID: 1702207; PMCID: PMC332843.
    654. Patel PI, Garcia C, Montes de Oca-Luna R, Malamut RI, Franco B, Slaugenhaupt S, Chakravarti A, Lupski JR. Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet. 1990 Dec; 47(6):926-34. PMID: 1978559; PMCID: PMC1683908.
    655. Nesin M, Svec P, Lupski JR, Godson GN, Kreiswirth B, Kornblum J, Projan SJ. Cloning and nucleotide sequence of a chromosomally encoded tetracycline resistance determinant, tetA(M), from a pathogenic, methicillin-resistant strain of Staphylococcus aureus. Antimicrob Agents Chemother. 1990 Nov; 34(11):2273-6. PMID: 2073121; PMCID: PMC172038.
    656. Lupski JR, Zhang YH, Rieger M, Minter M, Hsu B, Ooi BG, Koeuth T, McCabe ER. Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction. J Bacteriol. 1990 Oct; 172(10):6129-34. PMID: 2170343; PMCID: PMC526940.
    657. Ray R, Rincon-Limas D, Wright RA, Davis SN, Lupski JR, Patel PI. Three polymorphisms at the D17S29 locus. Nucleic Acids Res. 1990 Aug 25; 18(16):4958. PMID: 1975670; PMCID: PMC332022.
    658. Patel PI, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR. Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet. 1990 Apr; 46(4):801-9. PMID: 2316525; PMCID: PMC1683666.
    659. Patel PI, Ledbetter DH, Frances S, Franco B, Wallace MR, Collins FS, Lupski JR. Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]. Nucleic Acids Res. 1990 Feb 25; 18(4):1087. PMID: 1969146; PMCID: PMC330407.
    660. Lupski JR, Godson GN. DNA----DNA, and DNA----RNA----protein: orchestration by a single complex operon. Bioessays. 1989 May; 10(5):152-7. PMID: 2472787.
      View in: PubMed
    661. Nesin M, Lupski JR, Godson GN. Role of the 5' upstream sequence and tandem promoters in regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon. J Bacteriol. 1988 Dec; 170(12):5759-64. PMID: 2848013; PMCID: PMC211679.
    662. Lupski JR, Feigin RD. Molecular evolution of pathogenic Escherichia coli. J Infect Dis. 1988 Jun; 157(6):1120-3. PMID: 2897397.
      View in: PubMed
    663. Lupski JR. Molecular mechanisms for transposition of drug-resistance genes and other movable genetic elements. Rev Infect Dis. 1987 Mar-Apr; 9(2):357-68. PMID: 3035697.
      View in: PubMed
    664. Lupski JR. Immunity to malaria and naturally acquired antibodies to the circumsporozoite protein of Plasmodium falciparum. N Engl J Med. 1987 Feb 12; 316(7):415. PMID: 3100954.
      View in: PubMed
    665. Brosius J, Lupski JR. Plasmids for the selection and analysis of prokaryotic promoters. Methods Enzymol. 1987; 153:54-68. PMID: 2828849.
      View in: PubMed
    666. Nesin M, Lupski JR, Svec P, Godson GN. Possible new genes as revealed by molecular analysis of a 5-kb Escherichia coli chromosomal region 5' to the rpsU-dnaG-rpoD macromolecular-synthesis operon. Gene. 1987; 51(2-3):149-61. PMID: 3297921.
      View in: PubMed
    667. Lupski JR, Projan SJ, Ozaki LS, Godson GN. A temperature-dependent pBR322 copy number mutant resulting from a Tn5 position effect. Proc Natl Acad Sci U S A. 1986 Oct; 83(19):7381-5. PMID: 2429304; PMCID: PMC386721.
    668. Cudny H, Lupski JR, Godson GN, Deutscher MP. Cloning, sequencing, and species relatedness of the Escherichia coli cca gene encoding the enzyme tRNA nucleotidyltransferase. J Biol Chem. 1986 May 15; 261(14):6444-9. PMID: 3009457.
      View in: PubMed
    669. Peacock S, Lupski JR, Godson GN, Weissbach H. In vitro stimulation of Escherichia coli RNA polymerase sigma subunit synthesis by NusA protein. Gene. 1985; 33(2):227-34. PMID: 3888785.
      View in: PubMed
    670. Bukhari AI, Lupski JR, Svec P, Godson GN. Comparison of left-end DNA sequences of bacteriophages Mu and D108. Gene. 1985; 33(2):235-9. PMID: 3158574.
      View in: PubMed
    671. Lupski JR, Godson GN. The rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli. Cell. 1984 Dec; 39(2 Pt 1):251-2. PMID: 6388849.
      View in: PubMed
    672. Godson GN, Ellis J, Lupski JR, Ozaki LS, Svec P. Structure and organization of genes for sporozoite surface antigens. Philos Trans R Soc Lond B Biol Sci. 1984 Nov 13; 307(1131):129-39. PMID: 6151677.
      View in: PubMed
    673. Lupski JR, Gershon P, Ozaki LS, Godson GN. Specificity of Tn5 insertions into a 36-bp DNA sequence repeated in tandem seven times. Gene. 1984 Oct; 30(1-3):99-106. PMID: 6096228.
      View in: PubMed
    674. de Bruijn FJ, Lupski JR. The use of transposon Tn5 mutagenesis in the rapid generation of correlated physical and genetic maps of DNA segments cloned into multicopy plasmids--a review. Gene. 1984 Feb; 27(2):131-49. PMID: 6327463.
      View in: PubMed
    675. Lupski JR, Ruiz AA, Godson GN. Promotion, termination, and anti-termination in the rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli K-12. Mol Gen Genet. 1984; 195(3):391-401. PMID: 6206376.
      View in: PubMed
    676. Lupski JR, Ozaki LS, Ellis J, Godson GN. Localization of a Plasmodium surface antigen epitope by Tn5 mutagenesis mapping of a recombinant cDNA clone. Science. 1983 Jun 17; 220(4603):1285-8. PMID: 6190227.
      View in: PubMed
    677. Lupski JR, Smiley BL, Godson GN. Regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon and the initiation of DNA replication in Escherichia coli K-12. Mol Gen Genet. 1983; 189(1):48-57. PMID: 6222240.
      View in: PubMed
    678. Smiley BL, Lupski JR, Svec PS, McMacken R, Godson GN. Sequences of the Escherichia coli dnaG primase gene and regulation of its expression. Proc Natl Acad Sci U S A. 1982 Aug; 79(15):4550-4. PMID: 6750604; PMCID: PMC346712.
    679. Lupski JR, Smiley BL, Blattner FR, Godson GN. Cloning and characterization of the Escherichia coli chromosomal region surrounding the dnaG Gene, with a correlated physical and genetic map of dnaG generated via transposon Tn5 mutagenesis. Mol Gen Genet. 1982; 185(1):120-8. PMID: 6283308.
      View in: PubMed
    680. Chaconas G, de Bruijn FJ, Casadaban MJ, Lupski JR, Kwoh TJ, Harshey RM, DuBow MS, Bukhari AI. In vitro and in vivo manipulations of bacteriophage Mu DNA: cloning of Mu ends and construction of mini-Mu's carrying selectable markers. Gene. 1981 Jan-Feb; 13(1):37-46. PMID: 6263754.
      View in: PubMed
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